ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.520-1G>T

dbSNP: rs759262253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002481806 SCV002789118 pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222191 SCV003916845 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing NPHP3: PVS1, PM2, PM3
Molecular Genetics Laboratory, CHU Lille RCV001003471 SCV001160774 pathogenic Nephronophthisis 3 2020-02-12 no assertion criteria provided clinical testing

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