ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)

gnomAD frequency: 0.00049  dbSNP: rs17540735
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698173 SCV000527429 benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461407 SCV000559760 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313092 SCV000849084 likely benign Inborn genetic diseases 2017-03-22 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174014 SCV001337134 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821188 SCV002069336 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698173 SCV005074468 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing DYNC1H1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003942398 SCV004763401 likely benign DYNC1H1-related disorder 2022-06-28 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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