ClinVar Miner

Submissions for variant NM_001070.5(TUBG1):c.664A>C (p.Asn222His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004698443 SCV005199953 likely pathogenic Complex cortical dysplasia with other brain malformations 4 2024-09-02 criteria provided, single submitter clinical testing

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