ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.167T>C (p.Leu56Ser) (rs111527738)

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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 RCV000226755 SCV000965641 benign Familial platelet disorder with associated myeloid malignancy 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.167T>C (p.Leu56Ser) variant has a MAF of 0.03259 (3.259%, 518/15,894 alleles) in the South Asian subpopulation of the ExAC cohort that is >/= 0.0015 (0.15%) (BA1). This variant is detected in homozygous state (56) in gnomAD population database (BP2). Transactivation assays demonstrating normal transactivation (80-115% of wt) and data from secondary assays demonstrate normal DNA binding, CBF-beta binding and sub-cellular localization (BS3; PMID: 23817177). Two patients reported in PMID:29365323 with AML. But PS4 can not apply in combined with BA1. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BS3, BP2.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000226755 SCV000743126 benign Familial platelet disorder with associated myeloid malignancy 2015-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000226755 SCV000745582 benign Familial platelet disorder with associated myeloid malignancy 2015-05-08 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226755 SCV000435952 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226755 SCV000287182 benign Familial platelet disorder with associated myeloid malignancy 2017-08-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245382 SCV000308031 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000680395 SCV000807766 likely benign not provided 2016-08-29 criteria provided, single submitter clinical testing

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