ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) (rs369162678)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171146 SCV000221342 likely pathogenic not provided no assertion criteria provided research
Illumina Clinical Services Laboratory,Illumina RCV000308383 SCV000358394 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346948 SCV000358395 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing

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