ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=)

gnomAD frequency: 0.00001  dbSNP: rs761585621
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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 RCV001996705 SCV002227173 likely benign Nephronophthisis 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479557 SCV002777921 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-06-13 criteria provided, single submitter clinical testing

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