ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) (rs200665714)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000659030 SCV000657897 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000613036 SCV000729724 likely benign not specified 2017-08-17 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659030 SCV000780834 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000659030 SCV000843851 benign not provided 2018-07-19 criteria provided, single submitter clinical testing

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