ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)

gnomAD frequency: 0.00007  dbSNP: rs375090704
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000279729 SCV000345735 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059309 SCV002381642 likely benign Nephronophthisis 2024-06-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000279729 SCV001926163 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000279729 SCV001972389 likely benign not provided no assertion criteria provided clinical testing

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