ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.614-34C>T

gnomAD frequency: 0.99999  dbSNP: rs11702841
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000824703 SCV000965640 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.614-34C>T variant has a MAF of 1 (100%) in gnomAD cohort that is >/= 0.0015 (0.15%) (BA1). This variant is detected in homozygous state in gnomAD population database (BP2). This intronic variant is predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created (BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2, BP4.
PreventionGenetics, part of Exact Sciences RCV000247072 SCV000308034 benign not specified 2014-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001610618 SCV001838805 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000824703 SCV002032876 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-11-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316393 SCV004015351 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610618 SCV005310051 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000824703 SCV005881287 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2025-02-01 criteria provided, single submitter clinical testing

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