ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.423G>A (p.Gly141=)

gnomAD frequency: 0.00001  dbSNP: rs768646480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003698885 SCV004458490 likely benign not provided 2023-07-06 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245399 SCV002515632 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant no assertion criteria provided clinical testing

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