Submissions for variant NM_005188.4(CBL):c.1287C>T (p.Ile429=)

gnomAD frequency: 0.00031  dbSNP: rs148368481

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124137	SCV000167551	benign	not specified	2013-05-13	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.
Illumina Laboratory Services, Illumina	RCV000988760	SCV000367760	likely benign	CBL-related disorder	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000466105	SCV000555926	likely benign	RASopathy	2024-01-20	criteria provided, single submitter	clinical testing
Mendelics	RCV000988760	SCV001138612	likely benign	CBL-related disorder	2019-05-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124137	SCV001774701	likely benign	not specified	2021-07-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813383	SCV002060487	benign	Noonan syndrome and Noonan-related syndrome	2018-08-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000124137	SCV002068052	likely benign	not specified	2020-05-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381436	SCV002690155	likely benign	Cardiovascular phenotype	2022-03-03	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.
CeGaT Center for Human Genetics Tuebingen	RCV003422009	SCV004129479	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	CBL: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV000988760	SCV004780966	likely benign	CBL-related disorder	2020-08-25	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).