ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) (rs745770404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169230 SCV000220499 likely pathogenic Autosomal recessive polycystic kidney disease 2014-07-11 criteria provided, single submitter literature only
Broad Institute Rare Disease Group,Broad Institute RCV000169230 SCV000786708 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter research The heterozygous p.Arg760His variant was identified in the compound heterozygous state by our study in one individual with autosomal recessive polycystic kidney disease. The p.Arg760His variant is believed to be pathogenic based on numberous reports by other laboratories in the literature (Onuchic 2002, Bergmann 2005, Sharp 2005, Gunay-Aygun 2010).

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