ClinVar Miner

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

gnomAD frequency: 0.56697  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
Breakthrough Genomics, Breakthrough Genomics RCV001637990 SCV005247967 benign not provided criteria provided, single submitter not provided
GeneDx RCV001637990 SCV001848880 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
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

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