ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)

gnomAD frequency: 0.00004  dbSNP: rs758877590
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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 RCV001173879 SCV001336995 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068099 SCV002479394 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-04-15 criteria provided, single submitter clinical testing

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