ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.90G>T (p.Leu30=)

gnomAD frequency: 0.00081  dbSNP: rs770754649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877988 SCV001020817 benign DiGeorge syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001593118 SCV001826158 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363317 SCV002661182 likely benign Cardiovascular phenotype 2018-07-05 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.
CeGaT Center for Human Genetics Tuebingen RCV001593118 SCV004183953 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing TBX1: BP4, BP7

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