ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.549C>T (p.Phe183=)

gnomAD frequency: 0.00001  dbSNP: rs1468073803
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088638 SCV002388113 likely benign DiGeorge syndrome 2024-04-30 criteria provided, single submitter clinical testing

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