ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.-6G>T

gnomAD frequency: 0.00113  dbSNP: rs369779295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001725419 SCV001960372 benign not provided 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001725419 SCV002545884 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing PMP22: BP4

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