ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1158C>T (p.Ser386=) (rs373576697)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435237 SCV000515818 likely benign not specified 2017-06-20 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 RCV000653970 SCV000775860 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172980 SCV001336055 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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