ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.758T>C (p.Leu253Pro)

dbSNP: rs766314948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196798 SCV000255494 likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2014-06-10 criteria provided, single submitter clinical testing

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