ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.179-13C>G

gnomAD frequency: 0.00002  dbSNP: rs756820859
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173920 SCV001337039 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558759 SCV003492231 likely benign Charcot-Marie-Tooth disease, type I 2024-03-12 criteria provided, single submitter clinical testing

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