ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.2187A>G (p.Gln729=)

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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 RCV003076798 SCV003453851 likely benign Charcot-Marie-Tooth disease type 2 2025-01-16 criteria provided, single submitter clinical testing

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