ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.813G>A (p.Arg271=)

dbSNP: rs763723245
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004595616 SCV005088396 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation This synonymous variant (no REVEL score applicable) has SpliceAI scores ≤0.20 (0.01) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score < 2.0 (0.522) (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 RCV001497332 SCV001702058 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-06-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704625 SCV005206250 likely benign not provided criteria provided, single submitter not provided

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