Submissions for variant NM_015340.4(LARS2):c.1622+8G>A

gnomAD frequency: 0.00030  dbSNP: rs202009605

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426706	SCV000529734	likely benign	not specified	2018-03-08	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	RCV000426706	SCV000711480	likely benign	not specified	2016-10-18	criteria provided, single submitter	clinical testing	c.1622+8G>A in intron 14 of LARS2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 31/66680 European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs202009605).
Athena Diagnostics Inc	RCV000992264	SCV001144416	benign	not provided	2019-02-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000992264	SCV001473320	likely benign	not provided	2019-11-25	criteria provided, single submitter	clinical testing
Invitae	RCV000992264	SCV002427281	benign	not provided	2024-01-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992264	SCV004154331	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	LARS2: BP4