ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9242G>A (p.Arg3081His) (rs749753983)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727385 SCV000582530 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing The R3081H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3081H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3081H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727385 SCV000708068 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing

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