ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.774+5G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003138359 SCV003818950 uncertain significance Combined oxidative phosphorylation defect type 21 2020-04-23 criteria provided, single submitter clinical testing
Houlden Lab, UCL Institute of Neurology RCV003138359 SCV003035510 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research

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