ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.210A>C (p.Ala70=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005063979 SCV005691958 likely benign Charcot-Marie-Tooth disease type 2 2024-12-09 criteria provided, single submitter clinical testing

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