ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)

gnomAD frequency: 0.00068  dbSNP: rs111683745
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175248 SCV000226697 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087576 SCV001000704 likely benign Nephronophthisis 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000175248 SCV001814683 likely benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000175248 SCV001921021 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000175248 SCV001966954 likely benign not provided no assertion criteria provided clinical testing

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