ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11596-20G>A

gnomAD frequency: 0.00004  dbSNP: rs372623721
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419234 SCV000527787 likely benign not specified 2016-05-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173881 SCV001336997 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059634 SCV002451415 likely benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-27 criteria provided, single submitter clinical testing

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