ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.14795T>C

dbSNP: rs1603224896
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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 RCV000855158 SCV000998208 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14795T>C (YP_003024038.1:p.Ser17Pro) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PP6, PP7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287449 SCV002578122 uncertain significance Leber optic atrophy 2022-09-27 criteria provided, single submitter clinical testing

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