ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224965 SCV000493135 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224965 SCV000884155 pathogenic not provided 2017-05-12 criteria provided, single submitter 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G variant in MT-TK gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished).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
Undiagnosed Diseases Network,NIH RCV000010192 SCV001432759 pathogenic MERRF syndrome 2020-07-09 criteria provided, single submitter clinical testing This is a known pathogenic variant that accounts for about 80% of individuals with MERRF.
OMIM RCV000010192 SCV000030415 pathogenic MERRF syndrome 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
GeneReviews RCV000010193 SCV000188890 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
GeneReviews RCV000010192 SCV000207614 pathogenic MERRF syndrome 2015-01-29 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

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