ClinVar Miner

Submissions for variant NC_012920.1:m.8851T>C (rs199476136)

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Total submissions: 4
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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 RCV000144005 SCV000997375 likely pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8851T>C (YP_003024031.1:p.Trp109Arg) variant in MTATP6 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PM10, PP3, PP4, PP6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268336 SCV001447187 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000010280 SCV000030504 pathogenic Striatonigral degeneration, infantile, mitochondrial 2007-09-01 no assertion criteria provided literature only
GeneReviews RCV000144005 SCV000188892 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only

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