ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.1353T>C (p.His451=) (rs367711718)

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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 RCV000618894 SCV000735077 likely benign Cardiovascular phenotype 2015-06-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001080661 SCV000751446 benign DiGeorge Syndrome 2020-11-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713777 SCV000844407 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000713777 SCV001777456 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing

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