ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.1678G>C (p.Asp560His)

dbSNP: rs2102510285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV001527461 SCV001738512 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided clinical testing

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