Submissions for variant NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)

gnomAD frequency: 0.00079  dbSNP: rs79782048

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000121661	SCV000264132	likely benign	not specified	2015-04-22	criteria provided, single submitter	clinical testing
Invitae	RCV000988297	SCV000290246	likely benign	Adams-Oliver syndrome 5	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001579914	SCV000520858	likely benign	not provided	2020-10-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26820064, 18593716, 24728327, 26517685)
Ambry Genetics	RCV001170165	SCV000738419	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-12-01	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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660148	SCV000782142	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000988297	SCV001137965	benign	Adams-Oliver syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170165	SCV001332715	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-01-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121661	SCV004029526	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004542902	SCV004793399	likely benign	NOTCH1-related disorder	2019-10-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI	RCV000121661	SCV000085859	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579914	SCV001809007	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001579914	SCV001929966	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579914	SCV001963987	likely benign	not provided		no assertion criteria provided	clinical testing