ClinVar Miner

Submissions for variant NC_000021.8:g.(?_36421133)_(36421202_?)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 RCV001381811 SCV001580330 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2017-02-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in RUNX1 are known to be pathogenic (PMID: 18723428, 24100448). This variant is a gross deletion of the genomic region encompassing exon 2 of the RUNX1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the RUNX1 gene. This is expected to result in an absent or disrupted protein product.

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