ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1245T>G (p.Val415=)

gnomAD frequency: 0.00001  dbSNP: rs772276779
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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 RCV002089112 SCV002431035 likely benign Nephronophthisis 2024-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500132 SCV002810834 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-30 criteria provided, single submitter clinical testing

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