ClinVar Miner

Submissions for variant NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003388903 SCV004100804 uncertain significance Combined oxidative phosphorylation deficiency 35 2023-10-17 criteria provided, single submitter clinical testing Criteria applied: PM3,PM2_SUP

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