ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) (rs137852920)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003570 SCV000023728 pathogenic Nephronophthisis 4 2002-10-01 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162133 SCV000196419 likely pathogenic Infertility; Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities) 2014-12-01 no assertion criteria provided research

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