The EYA1 gene has been associated with autosomal dominant Branchio-oto-renal syndrome using the ClinGen Clinical Validity Framework as of 10/17/17. This association was made using case-level data. Multiple missense, nonsense, frameshift and splice-site variants have been reported in humans. EYA1 was first associated with this disease in humans as early as 1997 (Abdelhak et al.
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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