Submissions for variant NM_005188.4(CBL):c.1359A>C (p.Pro453=)

gnomAD frequency: 0.00188  dbSNP: rs34732429

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150241	SCV000197237	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Pro453Pro in Exon 09 of CBL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.6% (24/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs34732429).
GeneDx	RCV000150241	SCV000207780	benign	not specified	2014-10-10	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.
Invitae	RCV000232869	SCV000288830	benign	RASopathy	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001698975	SCV001473520	benign	not provided	2019-12-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000150241	SCV001554532	likely benign	not specified	2021-03-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000150241	SCV002066510	benign	not specified	2018-12-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381464	SCV002699963	likely benign	Cardiovascular phenotype	2022-05-17	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315938	SCV004016978	benign	Juvenile myelomonocytic leukemia	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975171	SCV004787867	likely benign	CBL-related condition	2019-04-30	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).
Clinical Genetics, Academic Medical Center	RCV001698975	SCV001925853	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000150241	SCV001956271	benign	not specified		no assertion criteria provided	clinical testing