ClinVar Miner

Submissions for variant NM_001064.4(TKT):c.1264+17T>C

gnomAD frequency: 0.54749  dbSNP: rs3736156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001838882 SCV002098483 benign Transketolase deficiency 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716849 SCV005301919 benign not provided criteria provided, single submitter not provided

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