Submissions for variant NM_005188.4(CBL):c.1299G>A (p.Pro433=)

gnomAD frequency: 0.00007  dbSNP: rs199633558

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539414	SCV000659093	benign	RASopathy	2023-12-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001193410	SCV001362206	benign	not specified	2019-12-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001712529	SCV001945429	likely benign	not provided	2018-07-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22810696)
Genetic Services Laboratory, University of Chicago	RCV001193410	SCV002069016	likely benign	not specified	2018-04-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001712529	SCV004129480	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	CBL: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004543252	SCV004758826	benign	CBL-related disorder	2019-11-27	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).