ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12513+10T>G (rs17512839)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427062 SCV000529963 likely benign not specified 2017-07-10 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 RCV001084638 SCV000559804 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711523 SCV000841901 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174048 SCV001337168 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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