ClinVar Miner

Submissions for variant m.12811T>C (rs199974018)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507393 SCV000604441 uncertain significance not provided 2018-03-17 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854857 SCV000997902 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.12811T>C (YP_003024036.1:p.Tyr1159His) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
GeneReviews RCV000055698 SCV000086617 pathologic Leber's optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Pathogenic.

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