Submissions for variant NM_018122.5(DARS2):c.228-12C>G

dbSNP: rs9425753

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000676389	SCV000168092	benign	not provided	2019-01-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28097321, 23065766, 27884173, 21427441)
Illumina Laboratory Services, Illumina	RCV000331247	SCV000351436	benign	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000331247	SCV001159638	benign	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	2023-11-29	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000331247	SCV001443039	benign	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	2020-03-01	criteria provided, single submitter	clinical testing	Review of the variants reported in Reuter et al., 2017, PMID: 28097321: BS1,BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676389	SCV001729818	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000331247	SCV004048874	benign	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676389	SCV005288517	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676389	SCV000802165	benign	not provided	2016-03-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000676389	SCV002034255	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000676389	SCV002035618	likely benign	not provided		no assertion criteria provided	clinical testing