ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2347G>T (p.Ala783Ser) (rs34077456)

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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 RCV000041275 SCV000064966 benign not specified 2011-05-04 criteria provided, single submitter clinical testing Ala783Ser in exon 23 of USH1C: This variant is not expected to have clinical sig nificance because it was identified in dbSNP in 2.6% (5/194) control chromosomes (rs34077456).
GeneDx RCV000041275 SCV000730466 benign not specified 2017-10-23 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 RCV000969059 SCV001116550 benign not provided 2020-12-06 criteria provided, single submitter clinical testing

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