Submissions for variant NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=)

gnomAD frequency: 0.00051  dbSNP: rs368495371

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476198	SCV000559905	benign	Adams-Oliver syndrome 5	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001550775	SCV001771162	likely benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000476198	SCV002554387	benign	Adams-Oliver syndrome 5	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270531	SCV002554388	benign	Aortic valve disease 1	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329126	SCV002634270	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-10-29	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	RCV004535473	SCV004736708	likely benign	NOTCH1-related disorder	2019-05-23	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).