ClinVar Miner

Submissions for variant NC_000001.11:g.(?_173903804)_(173917378_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470455 SCV000563982 pathogenic Hereditary antithrombin deficiency 2016-08-15 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SERPINC1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in SERPINC1 are known to be pathogenic. Deletions of the entire coding sequence of the SERPINC1 gene, also known as ATIII and AT3 in the literature, have been reported in individuals affected with antithrombin deficiency (PMID: 3663935, 10823268, 16956830). For these reasons, this variant has been classified as Pathogenic.

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