ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)

dbSNP: rs775281384
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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 RCV001391120 SCV001593025 likely pathogenic Nephronophthisis 3 criteria provided, single submitter research PM2:at extremely low frequency in gnomAD PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease PP5:Reputable source recently reports variant as pathogenic
Fulgent Genetics, Fulgent Genetics RCV002476735 SCV002798185 likely pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-13 criteria provided, single submitter clinical testing

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