ClinVar Miner

Submissions for variant NC_012920.1(MT-ND5):m.13063G>A

dbSNP: rs1603224017
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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 RCV000854888 SCV000997933 likely pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.13063G>A (YP_003024036.1:p.Val243Ile) variant in MTND5 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS3, PM8, PP4, PP6
Mendelics RCV002249551 SCV002517677 pathogenic Leber optic atrophy 2022-05-04 criteria provided, single submitter clinical testing

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