ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002982326 SCV003287589 likely benign DiGeorge syndrome 2022-03-20 criteria provided, single submitter clinical testing

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