ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13908C>T (p.Tyr4636=)

gnomAD frequency: 0.00002  dbSNP: rs777155356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698462 SCV000727698 likely benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317367 SCV000851602 likely benign Inborn genetic diseases 2017-03-20 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.
Clinical Genetics, Academic Medical Center RCV001698462 SCV001919129 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001698462 SCV001972434 likely benign not provided no assertion criteria provided clinical testing

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