Submissions for variant NM_005343.4(HRAS):c.309G>A (p.Val103=)

gnomAD frequency: 0.00004  dbSNP: rs575789207

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000519223	SCV000616472	benign	RASopathy	2017-04-18	reviewed by expert panel	curation	The filtering allele frequency of the c.309G>A (p.Val103=) variant in the HRAS gene is 0.063% (10/8640) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Invitae	RCV000227548	SCV000288854	likely benign	Costello syndrome	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001711138	SCV001942931	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813235	SCV002060511	likely benign	Noonan syndrome and Noonan-related syndrome	2016-12-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003894842	SCV004710296	benign	HRAS-related condition	2021-03-27	criteria provided, single submitter	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).