Submissions for variant NM_206933.4(USH2A):c.10836C>A (p.Val3612=)

gnomAD frequency: 0.02977  dbSNP: rs61276761

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041680	SCV000065376	benign	not specified	2010-12-14	criteria provided, single submitter	clinical testing	Val3612Val in exon 55 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed in dbSNP (rs61276761, 5/50 Black chromosomes).
Eurofins Ntd Llc (ga)	RCV000041680	SCV000231377	benign	not specified	2014-09-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000955867	SCV001102600	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000955867	SCV001146594	benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000955867	SCV001883817	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450741	SCV004182172	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273695	SCV004182173	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000955867	SCV005287631	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273695	SCV001457061	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing