ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) (rs80227512)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212999 SCV000171624 benign not specified 2014-05-19 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.
Genetic Services Laboratory, University of Chicago RCV000118339 SCV000152734 uncertain significance not provided 2014-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203974 SCV000454581 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301828 SCV000454582 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000203974 SCV000260173 benign Charcot-Marie-Tooth disease type 4 2018-01-06 criteria provided, single submitter clinical testing

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