Submissions for variant NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)

gnomAD frequency: 0.00031  dbSNP: rs374320445

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469297	SCV000559950	benign	Adams-Oliver syndrome 5	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001721531	SCV000719083	likely benign	not provided	2021-09-24	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680598	SCV000808026	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170715	SCV001333316	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-02-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000469297	SCV002555167	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270545	SCV002555168	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001170715	SCV002721066	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-31	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323556	SCV004029499	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721531	SCV004162067	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001721531	SCV004564034	likely benign	not provided	2023-10-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001721531	SCV005228714	likely benign	not provided		criteria provided, single submitter	not provided