ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1866G>A (p.Thr622=) (rs140624746)

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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 RCV000621611 SCV000735748 likely benign Cardiovascular phenotype 2017-01-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734060 SCV000862171 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing

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