Submissions for variant NM_015340.4(LARS2):c.1760+12T>C

gnomAD frequency: 0.50630  dbSNP: rs2306522

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219368	SCV000269208	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	1760+12T>C in intron 15 of LARS2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 37.1% (3193/8600) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs2306522).
PreventionGenetics, part of Exact Sciences	RCV000219368	SCV000312537	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000219368	SCV000517599	benign	not specified	2015-12-02	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.
Genome-Nilou Lab	RCV001730593	SCV001981300	benign	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730592	SCV001981302	benign	Perrault syndrome 4	2021-08-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057072	SCV002402778	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002057072	SCV005241181	benign	not provided		criteria provided, single submitter	not provided