Submissions for variant NM_005343.4(HRAS):c.282C>T (p.His94=)

gnomAD frequency: 0.00003  dbSNP: rs375893752

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038456	SCV000062129	likely benign	not specified	2011-10-14	criteria provided, single submitter	clinical testing	His94His in exon 3 of HRAS: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located near a splice junction.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001458613	SCV001662437	likely benign	Costello syndrome	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433504	SCV002746458	likely benign	Cardiovascular phenotype	2022-10-14	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	RCV005243107	SCV005892605	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	HRAS: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003894865	SCV004712020	likely benign	HRAS-related disorder	2022-03-20	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).