ClinVar Miner

Submissions for variant m.12192G>A

dbSNP: rs3134560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000851036 SCV000993270 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.12192G>A variant in MT-TH gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4
OMIM RCV000010231 SCV000030455 pathogenic Cardiomyopathy, idiopathic dilated, mitochondrial 2003-01-01 no assertion criteria provided literature only
OMIM RCV000010232 SCV000030456 pathogenic Cardiomyopathy, hypertrophic, mitochondrial 2003-01-01 no assertion criteria provided literature only

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