ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285196 SCV002574936 likely pathogenic Hereditary antithrombin deficiency 2022-09-16 criteria provided, single submitter clinical testing

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