ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.178+22A>G

gnomAD frequency: 0.59479  dbSNP: rs231020
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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 RCV000781981 SCV000920436 benign Charcot-Marie-Tooth disease, type I 2019-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001637989 SCV001848468 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637989 SCV005247968 benign not provided criteria provided, single submitter not provided

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