ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13260C>T (p.Gly4420=)

gnomAD frequency: 0.00004  dbSNP: rs777922418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698120 SCV000725416 likely benign not provided 2020-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873242 SCV001015198 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-11-06 criteria provided, single submitter clinical testing

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