ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)

gnomAD frequency: 0.00001  dbSNP: rs747405272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173210 SCV001336291 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429088 SCV001631799 likely benign Charcot-Marie-Tooth disease type 4 2023-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706063 SCV005221817 likely benign not provided criteria provided, single submitter not provided

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