ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.600C>T (p.Pro200=)

dbSNP: rs2146234551
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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 RCV002264800 SCV002546385 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-01-22 reviewed by expert panel curation This variant NM_001754.5(RUNX1):c.600C>T (p.Pro200=) is a synonymous variant. This is a synonymous variant therefore REVEL score cannot be applied but SpliceAI is ≤ 0.20 (0.00) (BP4). The PhyloP score is <2.0 (0.219) (BP7). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). 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, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001450372 SCV001653978 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2019-04-23 criteria provided, single submitter clinical testing

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