ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1534C>G (p.Arg512Gly)

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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 RCV005031222 SCV005658938 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-03-26 criteria provided, single submitter clinical testing

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