ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.136-4del

dbSNP: rs143323188
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204739 SCV000260620 benign Nephronophthisis 2024-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000204739 SCV000358559 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308778 SCV000358560 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294079 SCV002587140 likely benign Kidney disorder 2019-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494527 SCV002796646 likely benign Nephronophthisis 4; Senior-Loken syndrome 4 2021-09-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572782 SCV001797679 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699155 SCV001917141 benign not specified no assertion criteria provided clinical testing

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