ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1404G>A (p.Glu468=)

gnomAD frequency: 0.00001  dbSNP: rs770200607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001393463 SCV001595125 likely benign Nephronophthisis 2023-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493939 SCV002801101 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-02-02 criteria provided, single submitter clinical testing

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