ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.646-7C>T

gnomAD frequency: 0.00001  dbSNP: rs377495735
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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 RCV000874157 SCV001016289 likely benign Charcot-Marie-Tooth disease, type I 2023-06-15 criteria provided, single submitter clinical testing

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