ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.1005G>T (p.Gln335His) (rs80314254)

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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 RCV000233738 SCV000965636 benign Familial platelet disorder with associated myeloid malignancy 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.1005G>T (p.Gln335His) variant has a MAF of 0.00357 (0.357%, 15/4,206 alleles) in the East Asian subpopulation of the ExAC cohort that is >/= 0.0015 (0.15%) (BA1). This missense variant has a REVEL score 0.4. 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.
Illumina Clinical Services Laboratory,Illumina RCV000233738 SCV000435945 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233738 SCV000287176 likely benign Familial platelet disorder with associated myeloid malignancy 2017-12-23 criteria provided, single submitter clinical testing

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