ClinVar Miner

Submissions for variant NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) (rs121909548)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148884 SCV000190628 uncertain significance Antithrombin deficiency 2014-06-01 no assertion criteria provided research
Invitae RCV000019639 SCV000254588 likely benign Reduced antithrombin III activity 2018-01-09 criteria provided, single submitter clinical testing
OMIM RCV000019639 SCV000039937 pathogenic Reduced antithrombin III activity 1991-07-22 no assertion criteria provided literature only
PreventionGenetics RCV000249153 SCV000304464 likely benign not specified criteria provided, single submitter clinical testing

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