ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3])

dbSNP: rs1288296547
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878950 SCV001021943 likely benign DiGeorge syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444973 SCV002612442 likely benign Cardiovascular phenotype 2018-09-26 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.
CeGaT Center for Human Genetics Tuebingen RCV003432866 SCV004152118 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TBX1: BS1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000878950 SCV004809554 likely benign DiGeorge syndrome 2024-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967957 SCV004784602 likely benign TBX1-related disorder 2024-01-08 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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