ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.913C>A (p.Arg305=)

gnomAD frequency: 0.00015  dbSNP: rs751339103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515043 SCV000610355 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060206 SCV002411710 likely benign DiGeorge syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159655 SCV003889640 likely benign Cardiovascular phenotype 2023-01-05 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.

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