ClinVar Miner

Submissions for variant NC_012920.1(MT-TI):m.4311G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004006219 SCV004814147 uncertain significance Mitochondrial disease 2023-03-09 criteria provided, single submitter clinical testing The MT-TI m.4311G>A mitochondrial variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 3.2.1 of the Genome Aggregation Database. Based on the available evidence, the m.4311G>A variant is classified as a variant of uncertain significance for primary mitochondrial disease.

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