ClinVar Miner

Submissions for variant NM_015102.4(NPHP4):c.-236C>T

gnomAD frequency: 0.00022  dbSNP: rs185912310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400674 SCV000358579 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287021 SCV000358580 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing

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