ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)

gnomAD frequency: 0.00053  dbSNP: rs139994842
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474955 SCV000559919 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000607038 SCV000732173 benign not specified 2017-08-17 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.
Ambry Genetics RCV000770637 SCV000738404 benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770637 SCV000902088 benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000474955 SCV002554526 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270536 SCV002554528 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000607038 SCV003928447 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736784 SCV004564806 benign not provided 2023-03-14 criteria provided, single submitter clinical testing

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