ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.544G>T (p.Glu182Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035002 SCV005656480 likely pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-04-08 criteria provided, single submitter clinical testing

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