ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu)

gnomAD frequency: 0.00004  dbSNP: rs565091601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336934 SCV000351479 uncertain significance Hereditary antithrombin deficiency 2016-06-14 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000336934 SCV002499591 uncertain significance Hereditary antithrombin deficiency criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV000336934 SCV004099394 uncertain significance Hereditary antithrombin deficiency 2023-10-30 no assertion criteria provided clinical testing

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