ClinVar Miner

Submissions for variant NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)

dbSNP: rs869312709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209881 SCV000265604 uncertain significance not specified 2016-01-14 criteria provided, single submitter research
Centre of Medical Genetics, University of Antwerp RCV001796967 SCV001738060 likely pathogenic CTR9-related neurodevelopmental disorder 2021-04-01 criteria provided, single submitter research PS2, PM2, PP3
GeneDx RCV002272176 SCV002558431 pathogenic not provided 2022-07-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28554332, 35499524)

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