ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1887+17del

gnomAD frequency: 0.00006  dbSNP: rs772091214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002082714 SCV002323273 likely benign Nephronophthisis 2023-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494011 SCV002802478 likely benign Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-03-14 criteria provided, single submitter clinical testing

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