ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3907del (p.Val1303fs)

dbSNP: rs1581812192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789045 SCV000928392 pathogenic Autosomal recessive polycystic kidney disease 2018-10-18 criteria provided, single submitter clinical testing PVS1, PM2, PP4

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