ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)

gnomAD frequency: 0.00026  dbSNP: rs555522870
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442626 SCV001645578 likely benign DiGeorge syndrome 2023-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495621 SCV002797208 likely benign Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2022-03-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704557 SCV005208955 likely benign not provided criteria provided, single submitter not provided
GeneDx RCV004704557 SCV005379743 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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