ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.912A>G (p.Gln304=)

gnomAD frequency: 0.00004  dbSNP: rs794726975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173663 SCV000224802 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852113 SCV002179299 likely benign Nephronophthisis 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500458 SCV002790313 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-05-24 criteria provided, single submitter clinical testing

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