Submissions for variant NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)

gnomAD frequency: 0.00074  dbSNP: rs187473846

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226352	SCV000290267	likely benign	Adams-Oliver syndrome 5	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001170713	SCV000319510	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV001572783	SCV000532277	likely benign	not provided	2020-09-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28991257)
Eurofins Ntd Llc (ga)	RCV000121694	SCV000862405	benign	not specified	2018-07-11	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170713	SCV001333314	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000226352	SCV002555156	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269863	SCV002555157	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000121694	SCV004029541	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572783	SCV004162064	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NOTCH1: BS1, BS2
ITMI	RCV000121694	SCV000085892	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572783	SCV001797681	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001572783	SCV001807343	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572783	SCV001974183	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530027	SCV004741682	likely benign	NOTCH1-related disorder	2019-03-06	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).