ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr)

gnomAD frequency: 0.01565  dbSNP: rs146544321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987651 SCV001137050 likely benign Complex cortical dysplasia with other brain malformations 7 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001566646 SCV001790204 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000987651 SCV002809651 likely benign Complex cortical dysplasia with other brain malformations 7 2022-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566646 SCV005222700 likely benign not provided criteria provided, single submitter not provided

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