ClinVar Miner

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

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Total submissions: 4
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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
Baylor Genetics RCV000169564 SCV001163031 pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091108 SCV001246964 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing

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