ClinVar Miner

Submissions for variant NC_000001.10:g.(?_173873027)_(173962123_?)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 RCV004583965 SCV005065079 pathogenic Hereditary antithrombin deficiency 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with antithrombin deficiency (PMID: 3663935, 10823268, 16956830, 24889358, 29153735). A gross deletion of the genomic region encompassing the full coding sequence of the SERPINC1 gene has been identified. Loss-of-function variants in SERPINC1 are known to be pathogenic (PMID: 21264449). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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