ClinVar Miner

Submissions for variant m.14831G>A

dbSNP: rs199795644
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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 RCV000855165 SCV000998215 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14831G>A (YP_003024038.1:p.Ala29Thr) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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: BS1, BS2, BP4
GeneReviews RCV000055706 SCV000086631 not provided Leber optic atrophy no assertion provided literature only

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