ClinVar Miner

Submissions for variant NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro)

dbSNP: rs1407871103
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV000845148 SCV000987084 pathogenic Congenital ichthyosiform erythroderma 2017-06-07 no assertion criteria provided literature only

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