ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9264-8T>G (rs368432468)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000383732 SCV000339986 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000383732 SCV000512903 benign not specified 2015-06-18 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 RCV000462081 SCV000559783 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-09-27 criteria provided, single submitter clinical testing

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