ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3157-11T>C

gnomAD frequency: 0.00103  dbSNP: rs367593677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720193 SCV000524599 benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062670 SCV002446845 benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-27 criteria provided, single submitter clinical testing

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