ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.318C>G (p.Ala106=)

gnomAD frequency: 0.00001  dbSNP: rs767905417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001467116 SCV001671135 likely benign DiGeorge syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001762689 SCV001998870 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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