ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.396C>G (p.Gly132=)

gnomAD frequency: 0.00273  dbSNP: rs61757565
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925581 SCV001071123 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818886 SCV002067869 benign not specified 2018-10-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000925581 SCV004150727 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TUBB1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000925581 SCV005308137 benign not provided criteria provided, single submitter not provided

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