ClinVar Miner

Submissions for variant NC_000021.9:g.(?_34787801)_(35048958_?)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 RCV000476777 SCV000563937 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2016-11-18 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the RUNX1 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 RUNX1 are known to be pathogenic. Deletions of the entire RUNX1 gene have been reported in the literature in individuals affected with familial and idiopathic platelet disorder and acute myeloid leukemia (PMID: 19357396, 19679353, 21880633). For these reasons, this variant has been classified as Pathogenic.

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