ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=)

gnomAD frequency: 0.00009  dbSNP: rs147905977
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559524 SCV000651658 likely benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-07 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172875 SCV001335948 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001545611 SCV001764978 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367930 SCV002657939 benign Inborn genetic diseases 2019-03-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004745472 SCV005351729 likely benign DYNC1H1-related disorder 2024-09-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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