ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447801 SCV004175589 pathogenic Hereditary antithrombin deficiency 2021-12-13 criteria provided, single submitter clinical testing

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