ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) (rs119456961)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197494 SCV001368260 pathogenic Proteinuria; Hematuria; Chronic kidney disease 2019-09-23 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1. This variant was detected in heterozygous state.
OMIM RCV000002752 SCV000022910 pathogenic Nephronophthisis 3 2003-08-01 no assertion criteria provided literature only
Gharavi Laboratory,Columbia University RCV000681680 SCV000809127 pathogenic not provided 2018-09-16 no assertion criteria provided research

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