ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.90C>T (p.Ile30=)

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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 RCV003581280 SCV004285620 likely benign Charcot-Marie-Tooth disease, type I 2023-10-05 criteria provided, single submitter clinical testing

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