ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.671-14C>A

gnomAD frequency: 0.00001  dbSNP: rs370887292
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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 RCV002185590 SCV002354576 likely benign Nephronophthisis 2022-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498189 SCV002809500 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-12 criteria provided, single submitter clinical testing

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