Submissions for variant NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)

gnomAD frequency: 0.00058  dbSNP: rs111627256

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000560852	SCV000659498	likely benign	Adams-Oliver syndrome 5	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000606453	SCV000730372	likely benign	not specified	2018-03-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000770361	SCV000739364	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770361	SCV000901802	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2017-02-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579455	SCV004161989	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	NOTCH1: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003925739	SCV004738611	likely benign	NOTCH1-related condition	2022-01-28	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579455	SCV001807323	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579455	SCV001974377	likely benign	not provided		no assertion criteria provided	clinical testing