ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)

dbSNP: rs61751551
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226548 SCV000290250 benign Adams-Oliver syndrome 5 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001722261 SCV000716454 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313947 SCV000738450 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-10 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.
Genome-Nilou Lab RCV000226548 SCV002554945 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270037 SCV002554946 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323469 SCV004029547 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV002313947 SCV004239528 benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907890 SCV004722315 benign NOTCH1-related condition 2019-08-06 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).

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