ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) (rs1554216571)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666039 SCV000790272 likely pathogenic Autosomal recessive polycystic kidney disease 2017-03-23 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000666039 SCV000897969 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 below) in the same gene in compound heterozygosity.

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