ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12685-3C>T (rs149824412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440022 SCV000525064 likely benign not specified 2016-05-18 no assertion criteria provided 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 RCV000649636 SCV000771465 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2018-01-19 criteria provided, single submitter clinical testing

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