ClinVar Miner

Submissions for variant m.6480G>A (rs199476128)

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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 RCV000853974 SCV000997007 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.6480G>A (YP_003024028.1:p.Val193Ile) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS4, BP4
OMIM RCV000010304 SCV000030529 pathogenic Mitochondrial complex IV deficiency 1998-11-01 no assertion criteria provided literature only

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