ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.772-11A>T

gnomAD frequency: 0.00004  dbSNP: rs189649819
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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 RCV002172071 SCV002334301 likely benign Nephronophthisis 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498129 SCV002808506 likely benign Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-03-25 criteria provided, single submitter clinical testing

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