ClinVar Miner

Submissions for variant m.14279G>A

dbSNP: rs869025187
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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 RCV000855082 SCV000998129 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14279G>A (YP_003024037.1:p.Ser132Leu) variant in MTND6 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP4, PP6
GeneReviews RCV000055705 SCV000086630 not provided Leber optic atrophy no assertion provided literature only

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