Submissions for variant NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu)

gnomAD frequency: 0.01191  dbSNP: rs41302237

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041747	SCV000065443	benign	not specified	2011-11-03	criteria provided, single submitter	clinical testing	Gln4662Glu in exon 64 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in dbSNP in 1.8% (91/5013) control chr omosomes (rs41302237).
GeneDx	RCV000828964	SCV000970672	benign	not provided	2018-05-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000828964	SCV001112074	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000828964	SCV001146601	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450779	SCV004183112	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450778	SCV004183114	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000828964	SCV005287599	benign	not provided		criteria provided, single submitter	not provided