ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.540-16C>T

gnomAD frequency: 0.00033  dbSNP: rs200786105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513165 SCV001720725 benign DiGeorge syndrome 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323894 SCV004029855 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713001 SCV005275271 benign not provided criteria provided, single submitter not provided

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