ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)

gnomAD frequency: 0.16907  dbSNP: rs56110889
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041853 SCV000065549 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000041853 SCV000114880 benign not specified 2015-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000041853 SCV000169744 benign not specified 2013-10-30 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.
PreventionGenetics, part of Exact Sciences RCV000041853 SCV000317206 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514234 SCV001722033 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276252 SCV001750326 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041853 SCV003928760 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888397 SCV004707998 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001514234 SCV005280592 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276252 SCV001462260 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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