ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.880+1G>C

dbSNP: rs1582064292
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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 RCV000845136 SCV000987072 likely pathogenic Autosomal dominant polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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