ClinVar Miner

Submissions for variant NC_012920.1(MT-TW):m.5553T>C

dbSNP: rs878853053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224132 SCV000281119 likely benign not provided 2015-08-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850792 SCV000993025 benign MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.5553T>C variant in MT-TW gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished).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: BS1, BS2, BP4

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