ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.2140G>A (p.Ala714Thr)

dbSNP: rs1064797120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488143 SCV000574789 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Houlden Lab, UCL Institute of Neurology RCV003315433 SCV003035500 likely pathogenic Combined oxidative phosphorylation defect type 21 no assertion criteria provided research
OMIM RCV003315433 SCV004808378 pathogenic Combined oxidative phosphorylation defect type 21 2024-04-01 no assertion criteria provided literature only

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