ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.*2347C>A

gnomAD frequency: 0.00003  dbSNP: rs984388295
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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 RCV005001154 SCV005627471 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.*2347C>A is a 3' UTR variant which does not meet any ACMG/AMP criteria. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: None.
Illumina Laboratory Services, Illumina RCV001138469 SCV001298524 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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