ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.294C>T (p.Ser98=) (rs79338570)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619252 SCV000736308 benign Cardiovascular phenotype 2016-06-29 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 RCV000252839 SCV000855950 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331512 SCV000432951 likely benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374710 SCV000432952 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463388 SCV000557602 benign Alagille syndrome 1 2017-10-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000252839 SCV000303025 benign not specified criteria provided, single submitter clinical testing

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