ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3126-8T>G

gnomAD frequency: 0.00015  dbSNP: rs201592109
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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 RCV000861211 SCV001001465 benign Nephronophthisis 2024-06-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501191 SCV002807396 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-07-15 criteria provided, single submitter clinical testing

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