ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)

gnomAD frequency: 0.00009  dbSNP: rs538791873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194171 SCV000247213 uncertain significance not specified 2014-05-05 criteria provided, single submitter clinical testing
Invitae RCV000703958 SCV000832888 benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000842603 SCV000984631 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345690 SCV002652360 likely benign Inborn genetic diseases 2019-10-07 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.

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