ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)

gnomAD frequency: 0.00003  dbSNP: rs753192876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002386310 SCV002696360 likely benign Cardiovascular phenotype 2021-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002493365 SCV002799740 uncertain significance Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2022-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535423 SCV003245262 likely benign DiGeorge syndrome 2023-02-14 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000735273 SCV000854642 uncertain significance Tetralogy of Fallot 2018-12-06 no assertion criteria provided clinical testing

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