ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.891+12del (rs373578804)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV000342841 SCV001397550 benign Glanzmann thrombasthenia 2019-07-19 reviewed by expert panel curation The c.891+12del intronic variant has not been reported in the literature, to our knowledge. It is present in an African control population at an allele frequency of 0.01490 and no splice impact is predicted. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1, BP7.
Illumina Clinical Services Laboratory,Illumina RCV000342841 SCV000403382 uncertain significance Glanzmann thrombasthenia 2016-06-14 criteria provided, single submitter clinical testing

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