ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) (rs786204707)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169522 SCV000220996 likely pathogenic Autosomal recessive polycystic kidney disease 2014-12-29 criteria provided, single submitter literature only
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415273 SCV000493006 pathogenic Polycystic kidney dysplasia; Renal cyst; Ventricular hypertrophy 2014-08-21 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626994 SCV000747697 pathogenic Polycystic kidney dysplasia 2017-01-01 criteria provided, single submitter clinical testing

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