ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.*205C>A

gnomAD frequency: 0.00154  dbSNP: rs189734097
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309922 SCV000400705 uncertain significance Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362331 SCV000400706 uncertain significance Hereditary liability to pressure palsies 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001597089 SCV001832139 benign not provided 2020-01-24 criteria provided, single submitter clinical testing

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