ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)

gnomAD frequency: 0.00014  dbSNP: rs918788695
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983966 SCV001132019 likely benign DiGeorge syndrome 2023-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488070 SCV002804359 likely benign Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV003327473 SCV004034783 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing Reported in a patient with congenital heart defects in the published literature (Conti et al., 2003); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12700609)

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