ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2873-16C>T

gnomAD frequency: 0.00001  dbSNP: rs1387099711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173211 SCV001336292 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068078 SCV002331105 likely benign Charcot-Marie-Tooth disease type 4 2024-05-17 criteria provided, single submitter clinical testing

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