ClinVar Miner

Submissions for variant NC_012920.1:m.8950G>A (rs1556423574)

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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 RCV000854374 SCV000997408 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8950G>A (YP_003024031.1:p.Val142Ile) variant in MTATP6 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4
Molecular Biology Laboratory,University of Basrah RCV000766134 SCV000839531 likely pathogenic Bicuspid aortic valve no assertion criteria provided case-control

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