ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7986C>T (p.Phe2662=)

gnomAD frequency: 0.00001  dbSNP: rs768455078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403640 SCV001605515 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000867863 SCV001788596 likely benign not provided 2019-10-22 criteria provided, single submitter clinical testing

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