Submissions for variant NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)

gnomAD frequency: 0.00339  dbSNP: rs149222801

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041757	SCV000065453	benign	not specified	2012-05-15	criteria provided, single submitter	clinical testing	Ser4772Phe in Exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (41/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs149222801).
Invitae	RCV000894587	SCV001038580	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000894587	SCV001765338	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25468891)
Genome-Nilou Lab	RCV003450789	SCV004183082	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001826591	SCV004183083	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000894587	SCV002034345	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041757	SCV002038022	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826591	SCV002088230	likely benign	Usher syndrome type 2A	2021-08-27	no assertion criteria provided	clinical testing