ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) (rs181208607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169564 SCV000221060 likely pathogenic Autosomal recessive polycystic kidney disease 2015-01-22 criteria provided, single submitter literature only
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415427 SCV000492998 pathogenic Polycystic kidney dysplasia 2013-12-09 criteria provided, single submitter clinical testing

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