Submissions for variant NM_012208.4(HARS2):c.868C>T (p.Leu290=)

gnomAD frequency: 0.00427  dbSNP: rs73273316

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198400	SCV000251605	benign	not specified	2014-08-25	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000198400	SCV000269144	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Leu290Leu in exon 9 of HARS2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.6% (69/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73273316).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000677037	SCV001049950	benign	not provided	2024-12-09	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000677037	SCV000802871	likely benign	not provided	2016-03-16	no assertion criteria provided	clinical testing