ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.324G>T (p.Ala108=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002442205 SCV002750639 likely benign Cardiovascular phenotype 2022-05-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003507464 SCV004273843 likely benign DiGeorge syndrome 2022-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003961051 SCV004769803 likely benign TBX1-related disorder 2019-07-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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