ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.860-47G>A

gnomAD frequency: 0.28919  dbSNP: rs2271244
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 RCV000241657 SCV000303395 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001640477 SCV001857909 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001640477 SCV005239470 benign not provided criteria provided, single submitter not provided

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