ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) (rs777895612)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654248 SCV000776138 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172840 SCV001335913 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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