ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.927C>T (p.Pro309=) (rs201607803)

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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 RCV000618199 SCV000736356 benign Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Subpopulation frequency in support of benign classification
Invitae RCV000877082 SCV001019755 benign DiGeorge sequence 2019-12-31 criteria provided, single submitter clinical testing

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