ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu)

gnomAD frequency: 0.00001  dbSNP: rs1170430756
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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 RCV001801322 SCV002047531 pathogenic Hereditary antithrombin deficiency 2021-12-03 criteria provided, single submitter clinical testing

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