ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) (rs35761929)

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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 RCV000246517 SCV000318409 benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035330 SCV000339419 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303515 SCV000432896 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035330 SCV000058978 benign not specified 2010-09-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035330 SCV000303017 benign not specified criteria provided, single submitter clinical testing

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