ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12400-13C>T

gnomAD frequency: 0.00017  dbSNP: rs201722021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589529 SCV001815095 likely benign not provided 2020-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866120 SCV002162420 likely benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-06 criteria provided, single submitter clinical testing

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