ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.321T>G (p.Ile107Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142891 SCV003821641 uncertain significance Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2020-10-27 criteria provided, single submitter clinical testing

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