ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1473C>T (p.Phe491=) (rs144016931)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425079 SCV000514620 benign not specified 2015-04-26 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 RCV001083600 SCV000657896 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000535933 SCV001145601 likely benign not provided 2018-09-21 criteria provided, single submitter clinical testing

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