ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) (rs41298838)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618981 SCV000735260 benign Cardiovascular phenotype 2016-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
GeneDx RCV000828677 SCV000970374 benign not provided 2017-08-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000008000 SCV000625769 benign DiGeorge sequence 2017-11-10 criteria provided, single submitter clinical testing
OMIM RCV000008000 SCV000028205 pathogenic DiGeorge sequence 2003-10-25 no assertion criteria provided literature only

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