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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