ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) (rs201071654)

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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 RCV000607419 SCV000712960 benign not specified 2017-02-16 criteria provided, single submitter clinical testing p.Pro3114Ser in exon 47 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.1% of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s20107654).
GeneDx RCV000607419 SCV000730336 likely benign not specified 2017-08-10 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 RCV000937131 SCV001082906 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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