ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.867+11G>A

gnomAD frequency: 0.00004  dbSNP: rs180798122
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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 RCV002193504 SCV002488409 likely benign DiGeorge syndrome 2023-08-16 criteria provided, single submitter clinical testing

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