ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=) (rs5913)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV000861020 SCV001397554 benign Glanzmann thrombasthenia 2020-06-19 reviewed by expert panel curation The c.2916G>A; p.Pro972= synonymous variant has not been reported in the literature to our knowledge. It is present in a non-Finnish European control population at an allele frequency of 0.005351 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.
Genetic Services Laboratory, University of Chicago RCV000502076 SCV000595271 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV000861020 SCV001001223 benign Glanzmann thrombasthenia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000861020 SCV001287543 likely benign Glanzmann thrombasthenia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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