ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.540-8C>T

gnomAD frequency: 0.00049  dbSNP: rs72646960
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860941 SCV001001127 likely benign DiGeorge syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001619843 SCV001847260 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619843 SCV005208953 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001619843 SCV001932105 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001619843 SCV001973389 likely benign not provided no assertion criteria provided clinical testing

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