ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)

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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 Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003484584 SCV004229143 pathogenic Fabry disease 2023-10-31 criteria provided, single submitter clinical testing

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