ClinVar Miner

Submissions for variant NM_013393.3(MRM2):c.242C>T (p.Ala81Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002290772 SCV002098357 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36002240)
OMIM RCV003888328 SCV004708173 pathogenic Mitochondrial DNA depletion syndrome 17 2024-03-07 no assertion criteria provided literature only

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