Submissions for variant NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=)

gnomAD frequency: 0.00002  dbSNP: rs775567314

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698008	SCV000724019	likely benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315925	SCV000739459	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-12-07	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.
Genome-Nilou Lab	RCV002270799	SCV002554542	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270798	SCV002554543	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002270799	SCV003448481	likely benign	Adams-Oliver syndrome 5	2024-11-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001698008	SCV005878938	likely benign	not provided	2024-02-07	criteria provided, single submitter	clinical testing