ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)

gnomAD frequency: 0.00938  dbSNP: rs34152221
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226039 SCV000290313 benign Adams-Oliver syndrome 5 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000611404 SCV000731091 benign not specified 2017-05-18 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 RCV000769574 SCV000738394 benign Familial thoracic aortic aneurysm and aortic dissection 2015-08-11 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 RCV000769574 SCV000900971 benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000226039 SCV002553757 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270067 SCV002553759 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000611404 SCV004029530 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736665 SCV004563043 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000611404 SCV001807928 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000611404 SCV001975582 benign not specified no assertion criteria provided clinical testing

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