Gene Symbol:
TP53
HGNC:11998
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17p13.1
Filters:

Ambry Genetics classifications

AD
08/29/2018
Evaluated
09/28/2021
Submitted
Li-Fraumeni syndrome 1
Submitted as: OMIM:151623
AD
08/05/2016
Evaluated
09/28/2021
Submitted
adrenocortical carcinoma, hereditary
Submitted as: OMIM:202300
AD
08/23/2018
Evaluated
09/28/2021
Submitted
bone marrow failure syndrome 5
Submitted as: OMIM:618165
AD
08/29/2018
Evaluated
09/28/2021
Submitted

ClinGen classifications

Li-Fraumeni syndrome
AD
03/22/2024
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

Li-Fraumeni syndrome 1
Submitted as: OMIM:151623
AD
03/04/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

Li-Fraumeni syndrome
Submitted as: OMIM:151623
AD
06/10/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

Li-Fraumeni syndrome
Submitted as: Orphanet:524
AD
09/14/2021
Evaluated
09/14/2021
Submitted
choroid plexus carcinoma
Submitted as: Orphanet:251899
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Li-Fraumeni syndrome
Submitted as: OMIM:151623
AD
11/29/2016
Evaluated
09/11/2023
Submitted

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