ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.576T>G (p.Cys192Trp)

dbSNP: rs1554523224
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578305 SCV000680412 likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2017-11-28 criteria provided, single submitter clinical testing

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