ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.567G>A (p.Thr189=) (rs138724943)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617995 SCV000735692 likely benign Cardiovascular phenotype 2016-12-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001087768 SCV001021475 likely benign DiGeorge Syndrome 2019-08-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000878552 SCV001146090 benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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