ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.508+9T>G

dbSNP: rs549290119
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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 RCV003405691 SCV004123195 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.508+9T>G is an intronic varaint. MAF of 0.00019 (0.019%, 1/5204 alleles) in the East Asian subpopulation of the gnomAD 3.1.2 cohort is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). In summary, this variant meets the criteria to be classified as likely benign. REVEL score is not applicable and SpliceAI <=0.20 (0.03) (BP4). ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001500370 SCV001705156 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-05-21 criteria provided, single submitter clinical testing

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