ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.12338T>C

dbSNP: rs201863060
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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 RCV000854787 SCV000997831 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.12338T>C (YP_003024036.1:p.Met1?) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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
OMIM RCV000022893 SCV000044184 pathogenic Leber optic atrophy 2011-05-01 no assertion criteria provided literature only

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