ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)

gnomAD frequency: 0.00503  dbSNP: rs61751486
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232262 SCV000290306 benign Adams-Oliver syndrome 5 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000433777 SCV000529294 benign not specified 2016-12-06 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 RCV000769578 SCV000738447 benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-05 criteria provided, single submitter clinical testing This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769578 SCV000900975 benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000232262 SCV002553786 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270061 SCV002553787 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433777 SCV004029500 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000433777 SCV001809432 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000433777 SCV001965245 benign not specified no assertion criteria provided clinical testing

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