Submissions for variant m.8344A>G (rs118192098)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224965	SCV000884155	pathogenic	not provided	2017-05-12	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000224965	SCV000493135	uncertain significance	not provided	2016-08-31	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000224965	SCV000281618	pathogenic	not provided	2014-08-26	criteria provided, single submitter	clinical testing
GeneReviews	RCV000010193	SCV000188890	pathogenic	Leigh syndrome	2014-04-17	no assertion criteria provided	literature only
GeneReviews	RCV000010192	SCV000207614	pathogenic	Myoclonus with epilepsy with ragged red fibers	2015-01-29	no assertion criteria provided	literature only
OMIM	RCV000010192	SCV000030415	pathogenic	Myoclonus with epilepsy with ragged red fibers	2010-10-01	no assertion criteria provided	literature only
OMIM	RCV000010193	SCV000030416	pathogenic	Leigh syndrome	2010-10-01	no assertion criteria provided	literature only
OMIM	RCV000010194	SCV000030417	pathogenic	Parkinson disease, mitochondrial	2010-10-01	no assertion criteria provided	literature only
Wellcome Centre for Mitochondrial Research,Newcastle University	RCV000495310	SCV000577896	pathogenic	Mitochondrial diseases	2017-05-22	no assertion criteria provided	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000850950	SCV000993184	pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	2019-07-12	criteria provided, single submitter	clinical testing	The NC_012920.1:m.8344A>G variant in MT-TK gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5