ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.435G>A (p.Leu145=)

dbSNP: rs1906262905
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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 RCV001295372 SCV001484291 likely benign Charcot-Marie-Tooth disease, type I 2024-02-17 criteria provided, single submitter clinical testing

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