ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.695+3A>G

gnomAD frequency: 0.00001  dbSNP: rs587777594
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000132558 SCV002556794 likely pathogenic Combined oxidative phosphorylation defect type 21 2021-07-12 criteria provided, single submitter clinical testing
OMIM RCV000132558 SCV000187670 pathogenic Combined oxidative phosphorylation defect type 21 2014-08-01 no assertion criteria provided literature only
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000132558 SCV001738506 pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided clinical testing

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