ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.624C>T (p.Ala208=)

gnomAD frequency: 0.00005  dbSNP: rs777019611
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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 RCV000866829 SCV001007975 likely benign Charcot-Marie-Tooth disease type 4 2025-01-13 criteria provided, single submitter clinical testing

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