ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.748C>T (p.Gln250Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV004577606 SCV004218467 pathogenic Nephronophthisis 3 2023-12-01 criteria provided, single submitter clinical testing PVS1,PM2_p,PM3
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV004011332 SCV004847173 pathogenic NPHP3-related Meckel-like syndrome 2022-04-24 criteria provided, single submitter clinical testing

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