ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.179-17G>C

dbSNP: rs77406217
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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 RCV002929098 SCV003277155 likely benign Charcot-Marie-Tooth disease, type I 2023-03-11 criteria provided, single submitter clinical testing

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