ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.2051G>A (p.Arg684Gln)

dbSNP: rs1322913410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Houlden Lab, UCL Institute of Neurology RCV003315457 SCV003035498 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research
OMIM RCV003315457 SCV004808376 pathogenic Combined oxidative phosphorylation defect type 21 2024-04-01 no assertion criteria provided literature only

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