ClinVar Miner

Submissions for variant NM_030773.4(TUBB1):c.128_129delinsCC (p.Gln43Pro)

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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 RCV003041391 SCV003443847 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Institute of Immunology and Genetics Kaiserslautern RCV004587418 SCV005077709 uncertain significance Macrothrombocytopenia, isolated, 1, autosomal dominant 2024-05-02 criteria provided, single submitter clinical testing ACMG Criteria: PS3, BS1_P; Variant was found in heterozygous state

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