ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080870 SCV000657897 benign Charcot-Marie-Tooth disease type 4 2020-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000659030 SCV000729724 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659030 SCV000780834 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000659030 SCV000843851 benign not provided 2018-07-19 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172850 SCV001335923 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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