ClinVar Miner

Submissions for variant NM_005984.5(SLC25A1):c.889T>C (p.Tyr297His)

dbSNP: rs2083956740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336895 SCV001530414 uncertain significance 2-hydroxyglutaric aciduria 2018-09-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV005225389 SCV005871205 uncertain significance SLC25A1-related disorder 2024-01-01 criteria provided, single submitter clinical testing PM2

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