Submissions for variant NM_017617.5(NOTCH1):c.3901+3G>A

gnomAD frequency: 0.00043  dbSNP: rs373113999

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719910	SCV000724100	likely benign	not provided	2021-02-19	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660160	SCV000782154	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864876	SCV001005747	benign	Adams-Oliver syndrome 5	2024-01-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000143941	SCV001333785	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000864876	SCV002554453	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269926	SCV002554454	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000143941	SCV004990172	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2021-03-16	criteria provided, single submitter	clinical testing	The c.3901+3G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 23 in the NOTCH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Blueprint Genetics	RCV000143940	SCV000188818	likely benign	Marfan syndrome	2014-12-31	no assertion criteria provided	clinical testing
Blueprint Genetics	RCV000143941	SCV000188819	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2014-12-31	no assertion criteria provided	clinical testing