ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)

gnomAD frequency: 0.00003  dbSNP: rs748133009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206678 SCV001377998 benign Charcot-Marie-Tooth disease axonal type 2O 2024-09-04 criteria provided, single submitter clinical testing

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