ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.614-1G>A

dbSNP: rs776874412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Metabolic Disorders, Peking University First Hospital RCV000656123 SCV000599779 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2017-09-14 no assertion criteria provided research
OMIM RCV000656123 SCV002547471 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-07-13 no assertion criteria provided literature only

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