ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP6):m.8704A>G

dbSNP: rs878852994
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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 RCV000224912 SCV000280705 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854295 SCV000997328 likely benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8704A>G (YP_003024031.1:p.Met60Val) variant in MTATP6 gene is interpretated to be a Likely Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BP4

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