Submissions for variant NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)

gnomAD frequency: 0.01111  dbSNP: rs111033397

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041942	SCV000065638	benign	not specified	2011-01-10	criteria provided, single submitter	clinical testing	Ser3071Ser in exon 46 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 was identified in 6/118 (5%) Black individuals (rs11103339 7).
GeneDx	RCV000041942	SCV000714122	benign	not specified	2018-01-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000714162	SCV000844845	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000714162	SCV001102601	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450907	SCV004182728	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273706	SCV004182729	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000714162	SCV005287648	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273706	SCV001457076	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing