ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=)

gnomAD frequency: 0.00110  dbSNP: rs17512877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718824 SCV000512907 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Invitae RCV000475598 SCV000559782 benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374628 SCV002684952 likely benign Inborn genetic diseases 2018-06-22 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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