Submissions for variant NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)

gnomAD frequency: 0.00007  dbSNP: rs370523171

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539534	SCV000659448	likely benign	Adams-Oliver syndrome 5	2023-12-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001722526	SCV000721329	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315051	SCV000739472	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-04-04	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	RCV000660167	SCV000782161	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000539534	SCV002554374	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270698	SCV002554375	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing