ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)

dbSNP: rs387906636
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000022582 SCV000255384 pathogenic Intellectual disability, autosomal dominant 6 2014-01-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000022582 SCV001335343 likely pathogenic Intellectual disability, autosomal dominant 6 2017-04-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Diagnostic Laboratory, Strasbourg University Hospital RCV001260642 SCV001437734 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Laboratoire Génétique Moléculaire, CHRU TOURS RCV001541943 SCV001760577 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001541943 SCV005051193 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing GRIN2B: PM1, PM2, PM5, PS2:Moderate, PS4:Moderate, PP2
OMIM RCV000022582 SCV000043871 pathogenic Intellectual disability, autosomal dominant 6 2010-11-01 no assertion criteria provided literature only

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