ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)

gnomAD frequency: 0.00001  dbSNP: rs767519084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001527462 SCV001738513 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided clinical testing
OMIM RCV001527462 SCV002098049 pathogenic Combined oxidative phosphorylation defect type 21 2022-02-18 no assertion criteria provided literature only

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