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

gnomAD frequency: 0.00260  dbSNP: rs147039836

Total submissions: 7

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.
Invitae	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
Natera, Inc.	RCV001828058	SCV002090893	benign	Usher syndrome type 2A	2020-09-15	no assertion criteria provided	clinical testing