ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2346G>A (p.Val782=)

gnomAD frequency: 0.00001  dbSNP: rs200418725
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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) RCV000598470 SCV000706677 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497275 SCV002806925 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532539 SCV003515013 likely benign Nephronophthisis 2023-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000598470 SCV005372767 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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