ClinVar Miner

Submissions for variant NM_001005337.3(PKP1):c.*177del

dbSNP: rs886045814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309854 SCV000353253 uncertain significance Epidermolysis bullosa simplex due to plakophilin deficiency 2016-06-14 criteria provided, single submitter clinical testing

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