ClinVar Miner

Submissions for variant m.15615G>A

dbSNP: rs207459997
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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 RCV000855331 SCV000998381 likely pathogenic Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15615G>A (YP_003024038.1:p.Gly290Asp) variant in MTCYB gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM8, PM10, PP6, PP7
OMIM RCV000010316 SCV000030541 pathogenic Exercise intolerance 1999-09-30 no assertion criteria provided literature only

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