ClinVar Miner

Submissions for variant NM_003011.4(SET):c.130_133del (p.Arg44fs)

dbSNP: rs1554776342
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622364 SCV000742048 pathogenic Inborn genetic diseases 2016-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV001008142 SCV001167902 pathogenic not provided 2022-01-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29907757, 28135719, 28191890, 29688601, 31785789)
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526660 SCV001737092 pathogenic Global developmental delay criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000678248 SCV001976659 pathogenic Intellectual disability, autosomal dominant 58 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2, PP3
Revvity Omics, Revvity RCV000678248 SCV002020074 pathogenic Intellectual disability, autosomal dominant 58 2021-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001008142 SCV002063262 likely pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000678248 SCV002568279 pathogenic Intellectual disability, autosomal dominant 58 2022-04-18 criteria provided, single submitter clinical testing PVS1, PS4_Moderate, PM2, PM6
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV003106006 SCV003761537 pathogenic Intellectual disability 2023-01-13 criteria provided, single submitter clinical testing
OMIM RCV000678248 SCV000804271 pathogenic Intellectual disability, autosomal dominant 58 2022-04-29 no assertion criteria provided literature only
GenomeConnect - Brain Gene Registry RCV003325969 SCV004032155 not provided SET-related disorder no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 02-13-2020 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.