ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) (rs41277210)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041897 SCV000065593 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000041897 SCV000169748 benign not specified 2013-10-17 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.
Athena Diagnostics Inc RCV000087013 SCV001146619 benign not provided 2018-09-20 criteria provided, single submitter clinical testing
Invitae RCV000087013 SCV001719829 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087013 SCV000119266 not provided not provided no assertion provided not provided
Natera, Inc. RCV001274246 SCV001458126 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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