Submissions for variant NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)

gnomAD frequency: 0.00047  dbSNP: rs111756273

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541326	SCV000659405	benign	Adams-Oliver syndrome 5	2023-12-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001722525	SCV000717668	likely benign	not provided	2020-08-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000541326	SCV002554940	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270684	SCV002554941	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431727	SCV002741931	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-03-12	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	RCV004543256	SCV004773764	likely benign	NOTCH1-related disorder	2023-12-26	no assertion criteria provided	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).