ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.489G>A (p.Gly163=)

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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 RCV003742453 SCV004477668 likely benign Charcot-Marie-Tooth disease, type I 2023-05-17 criteria provided, single submitter clinical testing

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