ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)

dbSNP: rs35309576
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Total submissions: 9
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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 RCV000041699 SCV000065395 benign not specified 2008-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000041699 SCV000169761 benign not specified 2013-08-19 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.
Eurofins Ntd Llc (ga) RCV000041699 SCV000231853 benign not specified 2014-06-26 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000041699 SCV000317188 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517696 SCV001726254 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271134 SCV001748495 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483031 SCV002803390 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041699 SCV003928752 likely benign not specified 2023-04-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271134 SCV001451986 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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