ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) (rs56829872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155401 SCV000205088 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ser2773Ser in Exon 42 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.4% (54/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs56829872)."
GeneDx RCV000155401 SCV000523723 likely benign not specified 2018-03-05 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 RCV000965591 SCV001112861 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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