Submissions for variant NM_005343.4(HRAS):c.219C>T (p.Arg73=)

gnomAD frequency: 0.00001  dbSNP: rs749870259

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471546	SCV000560893	likely benign	Costello syndrome	2023-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431368	SCV002730718	likely benign	Cardiovascular phenotype	2021-12-13	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	RCV003392297	SCV004134986	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	HRAS: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003899987	SCV004709366	likely benign	HRAS-related disorder	2020-09-30	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).