ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)

gnomAD frequency: 0.00435  dbSNP: rs61751545
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228817 SCV000290265 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000357716 SCV000333256 likely benign not specified 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000357716 SCV000525649 benign not specified 2016-10-11 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 RCV000770634 SCV000738351 benign Familial thoracic aortic aneurysm and aortic dissection 2015-04-08 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660157 SCV000782151 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770634 SCV000902085 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000228817 SCV002554509 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270043 SCV002554510 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292494 SCV002585104 benign not provided 2023-11-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000357716 SCV003928452 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002292494 SCV004562860 benign not provided 2023-11-28 criteria provided, single submitter clinical testing

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