ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.13708G>A

dbSNP: rs28359178
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Total submissions: 3
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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 RCV000854970 SCV000998017 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.13708G>A (YP_003024036.1:p.Ala458Thr) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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
OMIM RCV000010336 SCV000030562 pathogenic Leber optic atrophy 1992-09-30 no assertion criteria provided literature only
GeneReviews RCV000010336 SCV000087252 unknown Leber optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Uncertain significance.

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