ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=)

gnomAD frequency: 0.00010  dbSNP: rs143642514
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500953 SCV000594426 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000867893 SCV001009164 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001565284 SCV001788602 likely benign not provided 2019-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438218 SCV002750613 likely benign Inborn genetic diseases 2018-07-23 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 RCV003942629 SCV004758144 likely benign DYNC1H1-related condition 2019-12-20 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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