ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) (rs781731042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618252 SCV000736024 uncertain significance Cardiovascular phenotype 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765609 SCV000896933 uncertain significance Conotruncal heart malformations; Shprintzen syndrome; DiGeorge sequence; Tetralogy of Fallot 2018-10-31 criteria provided, single submitter clinical testing

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