Submissions for variant NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=)

gnomAD frequency: 0.00001  dbSNP: rs933773128

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001462215	SCV001666128	likely benign	Adams-Oliver syndrome 5	2024-12-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001577767	SCV001805212	likely benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001462215	SCV002553862	likely benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271244	SCV002553863	likely benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003298803	SCV004008085	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-04-14	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	RCV004540378	SCV004760069	likely benign	NOTCH1-related disorder	2023-08-10	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).