ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.816A>G (p.Leu272=) (rs777128525)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252217 SCV000308681 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000871962 SCV001013706 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172975 SCV001336050 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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