ClinVar Miner

Submissions for variant NM_003194.5(TBP):c.228G>A (p.Gln76=)

gnomAD frequency: 0.22669  dbSNP: rs112083427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118600 SCV000153006 uncertain significance not provided 2014-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000118600 SCV001753919 benign not provided 2021-06-09 criteria provided, single submitter clinical testing

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