ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.224T>A (p.Ile75Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences RCV003231063 SCV003926638 likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2023-05-29 criteria provided, single submitter clinical testing

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