ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2268-9C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003093052 SCV003482681 uncertain significance Glanzmann thrombasthenia 2022-03-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This sequence change falls in intron 22 of the ITGA2B gene. It does not directly change the encoded amino acid sequence of the ITGA2B protein.

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