ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) (rs78253373)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041746 SCV000065442 benign not specified 2011-06-21 criteria provided, single submitter clinical testing Ser4588Tyr in exon 63 of USH2A: This variant is predicted to be benign based on its high frequency in the general population (dbSNP rs78253373).
GeneDx RCV000041746 SCV000515238 benign not specified 2015-07-02 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041746 SCV000605539 benign not specified 2019-02-20 criteria provided, single submitter clinical testing
Invitae RCV000880724 SCV001023843 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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