ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.663C>T (p.Tyr221=)

gnomAD frequency: 0.00234  dbSNP: rs113536847
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125577 SCV000169029 benign not specified 2013-12-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001079155 SCV000652141 benign Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000550487 SCV001155294 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TPK1: BP4, BP7

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