ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.606G>A (p.Leu202=)

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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 RCV003582574 SCV004273290 likely benign Charcot-Marie-Tooth disease, type I 2023-10-15 criteria provided, single submitter clinical testing

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