ClinVar Miner

Submissions for variant NM_030773.3(TUBB1):c.326G>A (p.Gly109Glu) (rs41303899)

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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 RCV000851596 SCV000899330 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851597 SCV000899331 uncertain significance Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
Baylor Genetics RCV001334290 SCV001527091 uncertain significance Autosomal dominant macrothrombocytopenia TUBB1-related 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. It has been reported to be statistically associated with low platelet count trait (note that study cohort is from general population) [PMID 24777453]

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