ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter)

dbSNP: rs767380935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851740 SCV000899609 likely pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV001838133 SCV002098327 likely pathogenic not provided 2022-01-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989599 SCV004807465 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant 2024-03-26 criteria provided, single submitter clinical testing

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