ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.492G>A (p.Pro164=) (rs111754814)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608725 SCV000714612 likely benign not specified 2017-12-07 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.
Ambry Genetics RCV000620254 SCV000735982 likely benign Cardiovascular phenotype 2015-08-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001088596 SCV000751447 benign DiGeorge Syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713780 SCV000844410 benign not provided 2017-12-27 criteria provided, single submitter clinical testing

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