ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) (rs773136605)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724042 SCV000228491 pathogenic not provided 2014-06-05 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000724042 SCV000927782 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000176777 SCV000536850 likely pathogenic Autosomal recessive polycystic kidney disease 2016-09-05 no assertion criteria provided research

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