ClinVar Miner

Submissions for variant NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)

gnomAD frequency: 0.00001  dbSNP: rs762983878
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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 RCV001336236 SCV001529574 uncertain significance Transketolase deficiency 2018-06-01 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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