ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8637+9C>T (rs202042156)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607810 SCV000718388 likely benign not specified 2017-11-24 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 RCV000649596 SCV000771425 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-08-31 criteria provided, single submitter clinical testing

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