ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.179-83T>C

gnomAD frequency: 0.56915  dbSNP: rs230950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000781982 SCV000920437 benign Charcot-Marie-Tooth disease, type I 2019-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001637990 SCV001848880 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637990 SCV005247967 benign not provided criteria provided, single submitter not provided

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