ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser)

dbSNP: rs1581526962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003238824 SCV003936470 pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24860126)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985023 SCV001132956 uncertain significance Complex cortical dysplasia with other brain malformations 7 2019-08-25 no assertion criteria provided clinical testing

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