ClinVar Miner

Submissions for variant NC_012920.1:m.15928G>A

dbSNP: rs527236198
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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 RCV000851132 SCV000993366 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.15928G>A variant in MT-TT gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BA1, BP4
Department of Zoology Govt. MVM College RCV000133442 SCV000188456 probable-pathogenic Neoplasm of ovary no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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