ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3812+16A>G

gnomAD frequency: 0.00019  dbSNP: rs376029054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002113972 SCV002439924 likely benign Nephronophthisis 2023-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494371 SCV002795662 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-18 criteria provided, single submitter clinical testing

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