ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=)

gnomAD frequency: 0.00006  dbSNP: rs759525537
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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 RCV001172874 SCV001335947 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001444379 SCV001647377 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-10-02 criteria provided, single submitter clinical testing

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