Submissions for variant NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=)

gnomAD frequency: 0.00003  dbSNP: rs769135138

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001707759	SCV000718867	likely benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing
Invitae	RCV001399210	SCV001600995	likely benign	Adams-Oliver syndrome 5	2023-03-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001399210	SCV002554254	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270770	SCV002554255	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358688	SCV002649513	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-09-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV001707759	SCV004162000	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7