Submissions for variant NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)

gnomAD frequency: 0.00002  dbSNP: rs773859845

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000977188	SCV001125102	likely benign	not provided	2024-12-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000977188	SCV004125593	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
Genome-Nilou Lab	RCV003454975	SCV004183037	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001272931	SCV004183038	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272931	SCV001455382	likely benign	Usher syndrome type 2A	2020-05-01	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700682	SCV001926091	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000977188	SCV001973674	likely benign	not provided		no assertion criteria provided	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004818089	SCV005070426	likely benign	Retinal dystrophy	2013-01-01	no assertion criteria provided	clinical testing