ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr)

dbSNP: rs121909558
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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 RCV002074468 SCV002320737 likely pathogenic Hereditary antithrombin deficiency 2022-01-24 criteria provided, single submitter clinical testing

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