Submissions for variant NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)

gnomAD frequency: 0.00011  dbSNP: rs758702512

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680585	SCV000808006	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000865331	SCV001006277	likely benign	Adams-Oliver syndrome 5	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001549628	SCV001769811	likely benign	not provided	2021-02-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000865331	SCV002554241	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270960	SCV002554242	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003343986	SCV004074299	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-07-27	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.