ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=)

gnomAD frequency: 0.00037  dbSNP: rs150374820
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721340 SCV000530329 benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Invitae RCV000477113 SCV000559765 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000421707 SCV000594413 likely benign not specified 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318476 SCV000850970 likely benign Inborn genetic diseases 2016-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003922809 SCV004741939 likely benign DYNC1H1-related condition 2022-05-06 criteria provided, single submitter 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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