Submissions for variant NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)

gnomAD frequency: 0.00293  dbSNP: rs61736946

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000767025	SCV000251612	likely benign	not provided	2020-07-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000195916	SCV000269143	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Gly369Arg in exon 10 of HARS2: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (41/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs61736946).
Eurofins Ntd Llc (ga)	RCV000195916	SCV000701942	benign	not specified	2016-10-14	criteria provided, single submitter	clinical testing
Invitae	RCV000767025	SCV001046451	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500613	SCV002810591	likely benign	Perrault syndrome 2	2021-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955189	SCV004776150	benign	HARS2-related condition	2020-01-20	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).