ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.*828G>A

gnomAD frequency: 0.06019  dbSNP: rs13027
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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 RCV000277968 SCV000400693 likely benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330696 SCV000400694 likely benign Hereditary liability to pressure palsies 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703706 SCV005211787 likely benign not provided criteria provided, single submitter not provided

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