Invitae

GenCC Ref: GENCC:000106

Invitae

This page is a summary of pilot submissions provided by Invitae. Click here to be notified about GenCC updates.

Invitae is a CLIA-certified fee-for-service clinical testing laboratory.


Website
Personnel
Jackie Tahiliani, Coordinator
Phone: 800-436-3037
Email: jackie.tahiliani@invitae.com

Assertion Criteria

Submissions

2364 total number of submissions
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hypogonadotropic hypogonadism 14 with or without anosmia
Submitted as: OMIM:614858
AD
01/23/2021
Evaluated
02/03/2022
Submitted
AR
05/05/2021
Evaluated
02/03/2022
Submitted
split hand-foot malformation
Submitted as: OMIM:225300
AR
01/15/2020
Evaluated
02/03/2022
Submitted
odonto-onycho-dermal dysplasia
Submitted as: OMIM:257980
AR
02/22/2021
Evaluated
02/03/2022
Submitted
idiopathic juvenile osteoporosis
Submitted as: OMIM:615221
AD
02/03/2021
Evaluated
02/03/2022
Submitted
osteogenesis imperfecta
Submitted as: OMIM:615220
AR
04/16/2020
Evaluated
02/03/2022
Submitted
pseudohypoaldosteronism type 2
Submitted as: OMIM:614491
AD
02/12/2019
Evaluated
02/03/2022
Submitted
pseudohypoaldosteronism type 2
Submitted as: OMIM:614492
AD
05/08/2019
Evaluated
02/03/2022
Submitted
hereditary sensory and autonomic neuropathy type 2
Submitted as: OMIM:201300
AR
06/04/2019
Evaluated
02/03/2022
Submitted
spermatogenic failure 33
Submitted as: OMIM:618152
AR
10/11/2021
Evaluated
02/03/2022
Submitted
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Submitted as: OMIM:617977
AR
10/30/2018
Evaluated
02/03/2022
Submitted
neurooculocardiogenitourinary syndrome
Submitted as: OMIM:618652
AD
10/08/2020
Evaluated
02/03/2022
Submitted
mullerian aplasia and hyperandrogenism
Submitted as: OMIM:158330
AD
09/23/2021
Evaluated
02/03/2022
Submitted
vertebral, cardiac, tracheoesophageal, renal, and limb defects
Submitted as: OMIM:619227
AD
04/06/2021
Evaluated
02/03/2022
Submitted
neurodevelopmental disorder with absent language and variable seizures
Submitted as: OMIM:618707
AD
10/08/2020
Evaluated
02/03/2022
Submitted
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Submitted as: OMIM:617710
AR
05/11/2021
Evaluated
02/03/2022
Submitted
neuronopathy, distal hereditary motor, type 9
Submitted as: OMIM:617721
AD
10/20/2020
Evaluated
02/03/2022
Submitted
neuropathy, hereditary motor, with myopathic features
Submitted as: OMIM:619216
AR
03/11/2021
Evaluated
02/03/2022
Submitted
congenital neutropenia-myelofibrosis-nephromegaly syndrome
Submitted as: OMIM:615285
AR
12/08/2021
Evaluated
02/03/2022
Submitted
late-onset Parkinson disease
Submitted as: OMIM:614203
AD
09/27/2021
Evaluated
02/03/2022
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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