Submissions for variant NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)

gnomAD frequency: 0.00260  dbSNP: rs147039836

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217122	SCV000269949	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Lys2079Thr in Exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (31/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs147039836).
Eurofins Ntd Llc (ga)	RCV000217122	SCV000706376	benign	not specified	2017-02-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000842299	SCV000984307	benign	not provided	2018-04-28	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	RCV000842299	SCV001055286	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454566	SCV004181688	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001828058	SCV004181689	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000842299	SCV005280584	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001828058	SCV002090893	benign	Usher syndrome type 2A	2020-09-15	no assertion criteria provided	clinical testing