ClinVar Miner

Submissions for variant m.13637A>G

dbSNP: rs200855215
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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 RCV000854959 SCV000998006 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.13637A>G (YP_003024036.1:p.Gln434Arg) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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: BS1, BS2
GeneReviews RCV000055699 SCV000086619 not provided Leber optic atrophy no assertion provided literature only

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