ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6082+10C>T

gnomAD frequency: 0.00019  dbSNP: rs114120958
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607877 SCV000717346 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001445204 SCV001648226 likely benign Adams-Oliver syndrome 5 2025-01-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798918 SCV002043539 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001445204 SCV002554235 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270749 SCV002554236 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001798918 SCV004849171 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-08-21 criteria provided, single submitter clinical testing The c.6082+10C>T intronic alteration consists of a C to T substitution 0 nucleotides after coding exon 32 in the NOTCH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004543421 SCV004759700 likely benign NOTCH1-related disorder 2023-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.