ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1353-47T>C

gnomAD frequency: 0.07914  dbSNP: rs1509419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252713 SCV000303400 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640478 SCV001856121 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640478 SCV005239465 benign not provided criteria provided, single submitter not provided

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