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

gnomAD frequency: 0.00293  dbSNP: rs61736946

Total submissions: 7

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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000767025	SCV001046451	likely benign	not provided	2024-12-18	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
Breakthrough Genomics, Breakthrough Genomics	RCV000767025	SCV005228701	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003955189	SCV004776150	benign	HARS2-related disorder	2020-01-20	no assertion criteria provided	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).