ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) (rs201720217)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428382 SCV000535714 likely benign not specified 2017-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000873744 SCV001015800 benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173179 SCV001336259 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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