ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.887A>G (p.Glu296Gly)

dbSNP: rs1669673209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332598 SCV001524973 uncertain significance Combined oxidative phosphorylation defect type 21 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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