ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.5672T>C

dbSNP: rs1603220085
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Total submissions: 2
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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 RCV000850830 SCV000993063 uncertain significance Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.5672T>C variant in MT-TN gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BP4, PP7
Medical Genetics, CHU Nice RCV001090134 SCV001244366 likely pathogenic Mitochondrial disease 2019-10-01 no assertion criteria provided in vitro Proximal muscle weakness in lower limbs, exercise intolerance, myalgia, CPEO

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