ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13515+18G>A

gnomAD frequency: 0.00025  dbSNP: rs200633553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665247 SCV001874993 benign not provided 2021-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073045 SCV002410459 benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001665247 SCV005878153 benign not provided 2024-04-16 criteria provided, single submitter clinical testing

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