ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.859+8G>C

dbSNP: rs765856771
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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 RCV002180791 SCV002352024 likely benign Nephronophthisis 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498183 SCV002805369 likely benign Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-05-27 criteria provided, single submitter clinical testing

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