Submissions for variant NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=)

gnomAD frequency: 0.00014  dbSNP: rs200573958

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000556336	SCV000723737	likely benign	not provided	2021-03-17	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000660149	SCV000782143	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001424223	SCV001626816	likely benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001424223	SCV002554993	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270679	SCV002554994	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003302891	SCV003999756	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-05-11	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.
PreventionGenetics, part of Exact Sciences	RCV004543255	SCV004786135	likely benign	NOTCH1-related disorder	2020-10-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).