ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.2301+5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003332912 SCV004040441 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798980 SCV005420526 likely pathogenic Glanzmann thrombasthenia 2 2024-10-04 criteria provided, single submitter research PM2,PP4,PP3

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