Submissions for variant NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)

gnomAD frequency: 0.00029  dbSNP: rs199740882

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002315080	SCV000739400	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-02-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866670	SCV001007798	benign	Adams-Oliver syndrome 5	2024-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001591390	SCV001827190	likely benign	not provided	2021-06-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000866670	SCV002554398	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270880	SCV002554399	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330840	SCV004039091	benign	not specified	2023-08-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544813	SCV004788778	likely benign	NOTCH1-related disorder	2022-05-11	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).