ClinVar Miner

Submissions for variant NC_012920.1(MT-CO1):m.6264G>A

dbSNP: rs267606882
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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 RCV000853954 SCV000996987 uncertain significance Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.6264G>A (YP_003024028.1:p.Gly121Ter) variant in MTCO1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: no criteria
OMIM RCV000010305 SCV000030530 pathogenic Familial colorectal cancer 1998-11-01 no assertion criteria provided literature only

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