ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)

gnomAD frequency: 0.00017  dbSNP: rs140154194
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711529 SCV000722652 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711529 SCV000841907 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV001081409 SCV001002754 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711529 SCV001334502 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing DYNC1H1: BP4, BP7
Ambry Genetics RCV002420621 SCV002720418 likely benign Inborn genetic diseases 2017-11-13 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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