ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12513+17C>T

gnomAD frequency: 0.00027  dbSNP: rs368189529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426816 SCV000528509 likely benign not specified 2017-04-10 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 RCV001174049 SCV001337169 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810932 SCV001473385 likely benign not provided 2023-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059692 SCV002440388 likely benign Charcot-Marie-Tooth disease axonal type 2O 2025-02-03 criteria provided, single submitter clinical testing

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