ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.322T>C (p.Tyr108His) (rs193922292)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711770 SCV000842166 likely pathogenic not provided 2019-01-23 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282834 chr). Statistically enriched in patients compared to ethnically matched controls. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein.

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