Submissions for variant NM_015340.4(LARS2):c.972C>A (p.His324Gln)

gnomAD frequency: 0.02186  dbSNP: rs71645922

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220287	SCV000269220	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.His324Gln in exon 10 of LARS2: This variant is not expected to have clinical s ignificance because it has been identified in 3.5% (300/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs71645922).
GeneDx	RCV000220287	SCV000517707	benign	not specified	2016-03-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000220287	SCV000861028	benign	not specified	2018-05-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676564	SCV000884065	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000676564	SCV001144420	benign	not provided	2019-02-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676564	SCV002379558	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676564	SCV005241170	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676564	SCV000802350	likely benign	not provided	2016-02-22	no assertion criteria provided	clinical testing