ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.*1120T>C

gnomAD frequency: 0.01749  dbSNP: rs11654383
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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 RCV000334543 SCV000400683 likely benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399372 SCV000400684 likely benign Hereditary liability to pressure palsies 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705347 SCV005211785 likely benign not provided criteria provided, single submitter not provided

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