ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.814G>A (p.Val272Ile) (rs148990028)

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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 RCV000244534 SCV000320226 uncertain significance Cardiovascular phenotype 2015-11-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000597837 SCV000645536 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597837 SCV000703842 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing

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