ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.148-19T>A

gnomAD frequency: 0.01865  dbSNP: rs80026530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666793 SCV001885485 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073133 SCV002401891 benign Aortic valve disease 2 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666793 SCV005233734 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004770185 SCV005380680 benign not specified 2024-08-11 criteria provided, single submitter clinical testing

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