ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290317 SCV002580331 uncertain significance Velocardiofacial syndrome 2022-05-02 criteria provided, single submitter clinical testing

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