ClinVar Miner

Submissions for variant NC_012920.1:m.15453T>C

dbSNP: rs527236184
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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 RCV000855297 SCV000998347 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.15453T>C (YP_003024038.1:p.Leu236Pro) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished).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: PM10, BS1
Department of Zoology Govt. MVM College RCV000133428 SCV000188442 probable-pathogenic Neoplasm of ovary no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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