ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.352-11C>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 RCV005001338 SCV005627472 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-11-04 reviewed by expert panel curation NM_001754.5(RUNX1):c.968-9G>T is an intronic variant. SpliceAI predicts no impact on splicing (score: 0.01), supporting BP4. Additionally, evolutionary conservation algorithms predict the site as not being conserved, with a PhyloP score of 1.154 (≤ 2.0), supporting BP7. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV003022151 SCV003321961 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-02-25 criteria provided, single submitter clinical testing

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