ClinVar Miner

Submissions for variant NC_000021.9:g.(?_35048832)_(35049298_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001290715 SCV001478852 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-10-14 reviewed by expert panel curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000805905 SCV000945880 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-08-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-2 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. This variant has not been reported in the literature in individuals with RUNX1-related disease. Loss-of-function variants in RUNX1 are known to be pathogenic (PMID: 18723428, 24100448). For these reasons, this variant has been classified as Pathogenic.

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