Submissions for variant NM_005343.4(HRAS):c.534C>G (p.Gly178=)

gnomAD frequency: 0.00004  dbSNP: rs770431635

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000464492	SCV000560898	likely benign	Costello syndrome	2023-11-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001420905	SCV001623350	likely benign	not specified	2021-04-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001575546	SCV001802561	likely benign	not provided	2021-06-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350036	SCV002645059	likely benign	Cardiovascular phenotype	2019-06-17	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.
CeGaT Center for Human Genetics Tuebingen	RCV001575546	SCV004134981	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	HRAS: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003970343	SCV004783294	likely benign	HRAS-related condition	2020-09-09	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).