ClinVar Miner

Submissions for variant NC_012920.1:m.9185T>C (rs199476138)

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Total submissions: 5
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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 RCV000010282 SCV000997508 pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.9185T>C (YP_003024031.1:p.Leu220Pro) variant in MTATP6 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM9, PM10, PP3, PP4
OMIM RCV000754648 SCV000030506 pathogenic Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 2007-04-15 no assertion criteria provided literature only
GeneReviews RCV000010282 SCV000188897 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
GeneReviews RCV000240612 SCV000299229 pathogenic Charcot-Marie-Tooth disease 2016-09-01 no assertion criteria provided literature only
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000495689 SCV000577900 pathogenic Mitochondrial diseases 2017-05-22 no assertion criteria provided clinical testing

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