ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1380T>C (p.His460=)

dbSNP: rs367711718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618894 SCV000735077 likely benign Cardiovascular phenotype 2015-06-24 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 RCV001080661 SCV000751446 benign DiGeorge syndrome 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713777 SCV000844407 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000713777 SCV001777456 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701705 SCV005204773 benign not specified 2024-06-17 criteria provided, single submitter clinical testing

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