ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.840C>T (p.Thr280=)

gnomAD frequency: 0.00063  dbSNP: rs61730282
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000535518 SCV000525757 likely benign not provided 2020-06-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27879657)
Labcorp Genetics (formerly Invitae), Labcorp RCV001080365 SCV000625767 benign DiGeorge syndrome 2025-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999397 SCV001146092 benign not specified 2024-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418289 SCV002680281 likely benign Cardiovascular phenotype 2018-03-06 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.
Breakthrough Genomics, Breakthrough Genomics RCV000535518 SCV005208954 likely benign not provided criteria provided, single submitter not provided

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