ClinVar Miner

Submissions for variant NC_012920.1(MT-TT):m.15950G>A

dbSNP: rs118203890
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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 RCV000851154 SCV000993388 uncertain significance MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.15950G>A variant in MT-TT gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PP3, BP6
OMIM RCV000010169 SCV000030390 risk factor Parkinson disease, mitochondrial 1999-04-01 no assertion criteria provided literature only

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