ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.318T>C (p.Ala106=)

gnomAD frequency: 0.00009  dbSNP: rs778234032
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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 RCV001433157 SCV001635943 likely benign Charcot-Marie-Tooth disease, type I 2024-05-17 criteria provided, single submitter clinical testing

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