ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) (rs1584017035)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV001002799 SCV001160772 uncertain significance Charcot-Marie-Tooth disease type 2D 2019-09-12 criteria provided, single submitter clinical testing

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