ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln)

gnomAD frequency: 0.00010  dbSNP: rs200521815
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000662263 SCV000747187 uncertain significance Adams-Oliver syndrome 5 2017-12-01 criteria provided, single submitter research
Invitae RCV000662263 SCV001006331 benign Adams-Oliver syndrome 5 2024-01-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335847 SCV001529090 uncertain significance Aortic valve disease 1 2018-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001577624 SCV001805034 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362750 SCV002666249 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001577624 SCV004562915 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530028 SCV004733688 benign NOTCH1-related disorder 2019-05-15 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000121703 SCV000085901 not provided not specified 2013-09-19 no assertion provided reference population

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