ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.133G>T (p.Val45Leu) (rs183974372)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618886 SCV000736242 likely benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597398 SCV000709460 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303889 SCV000432959 likely benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345913 SCV000432960 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645022 SCV000766761 benign Alagille syndrome 1 2017-08-18 criteria provided, single submitter clinical testing

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