ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4485del (p.Ser1496fs)

dbSNP: rs1325403863
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000770983 SCV000897970 pathogenic Autosomal recessive polycystic kidney disease 2018-05-15 criteria provided, single submitter clinical testing This recessive variant was identified in a newborn baby diagnosed with renal polykystosis. The patient also harbours a second variant (see above) in the same gene in compound heterozygosity.

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