ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)

gnomAD frequency: 0.00002  dbSNP: rs780744467
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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 RCV001172868 SCV001335941 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068069 SCV002423446 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-22 criteria provided, single submitter clinical testing

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