Submissions for variant NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)

gnomAD frequency: 0.00645  dbSNP: rs80340744

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000988296	SCV000290268	benign	Adams-Oliver syndrome 5	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000121679	SCV000731022	benign	not specified	2017-02-01	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	RCV000770632	SCV000738381	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-17	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	RCV000770632	SCV000902083	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-08-11	criteria provided, single submitter	clinical testing
Mendelics	RCV000988296	SCV001137964	likely benign	Adams-Oliver syndrome 5	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988296	SCV002554469	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269855	SCV002554470	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121679	SCV004029529	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430678	SCV004162032	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	NOTCH1: PP2, BP4, BS1, BS2
ITMI	RCV000121679	SCV000085877	not provided	not specified	2013-09-19	no assertion provided	reference population