ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=)

gnomAD frequency: 0.00002  dbSNP: rs1266229950
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001984761 SCV002208819 likely benign Nephronophthisis 2023-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484661 SCV002792442 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-03-04 criteria provided, single submitter clinical testing

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