ClinVar Miner

Submissions for variant m.15812G>A (rs200336777)

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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 RCV000855379 SCV000998429 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15812G>A (YP_003024038.1:p.Val356Met) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1
OMIM RCV000010313 SCV000030538 pathogenic Leber's optic atrophy 1992-01-01 no assertion criteria provided literature only

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