ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.805+8C>T

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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 RCV005001327 SCV005627458 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.805+8C>T is an intronic variant which has a SpliceAI score ≤ 0.20 (0.01) (BP4). 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: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002877439 SCV003240932 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-11-03 criteria provided, single submitter clinical testing

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