Submissions for variant NM_020745.4(AARS2):c.750-5G>A

gnomAD frequency: 0.00739  dbSNP: rs78410483

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123422	SCV000166738	benign	not specified	2013-05-23	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970144	SCV001117707	benign	not provided	2024-01-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163663	SCV001325724	uncertain significance	Combined oxidative phosphorylation defect type 8	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.