ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1525-5del

dbSNP: rs762115717
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725498 SCV000337343 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380535 SCV000441127 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266970 SCV000441128 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326747 SCV000441129 uncertain significance Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725498 SCV000566383 likely benign not provided 2019-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000380535 SCV001001393 likely benign Nephronophthisis 2024-11-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820819 SCV002070636 uncertain significance not specified 2018-05-24 criteria provided, single submitter clinical testing

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