ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)

gnomAD frequency: 0.03269  dbSNP: rs56032526
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Total submissions: 7
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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 RCV000041949 SCV000065645 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000041949 SCV000169754 benign not specified 2014-05-06 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 RCV000041949 SCV000317216 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000087015 SCV001722031 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273704 SCV001750314 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000087015 SCV000119268 not provided not provided no assertion provided not provided
Natera, Inc. RCV001273704 SCV001457074 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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