ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.69+20A>G

gnomAD frequency: 0.00006  dbSNP: rs199941495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134508 SCV002459351 likely benign Nephronophthisis 2023-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494447 SCV002799084 likely benign Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2021-07-23 criteria provided, single submitter clinical testing

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