ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)

gnomAD frequency: 0.00010  dbSNP: rs35546990
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724821 SCV000331962 uncertain significance not provided 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000724821 SCV000531962 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084352 SCV000559762 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379108 SCV002693129 likely benign Inborn genetic diseases 2017-09-22 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV003947828 SCV004761434 likely benign DYNC1H1-related disorder 2022-08-03 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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