ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)

gnomAD frequency: 0.00001  dbSNP: rs768704768
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Total submissions: 2
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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 RCV001801304 SCV002047513 likely pathogenic Hereditary antithrombin deficiency 2021-03-10 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001801304 SCV004099483 uncertain significance Hereditary antithrombin deficiency 2023-10-30 no assertion criteria provided clinical testing

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