ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.915G>C (p.Arg305=)

gnomAD frequency: 0.00010  dbSNP: rs146109202
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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 RCV001445723 SCV001648757 likely benign DiGeorge syndrome 2022-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377736 SCV002685522 likely benign Cardiovascular phenotype 2022-09-26 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.
PreventionGenetics, part of Exact Sciences RCV003946163 SCV004760050 likely benign TBX1-related disorder 2019-02-22 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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