ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2766C>T (p.Asp922=) (rs2229895)

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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 RCV000246570 SCV000318057 benign Cardiovascular phenotype 2015-07-27 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
Illumina Clinical Services Laboratory,Illumina RCV000342753 SCV000432894 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390016 SCV000432895 likely benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230866 SCV000283869 benign Alagille syndrome 1 2017-08-31 criteria provided, single submitter clinical testing
PreventionGenetics RCV000200156 SCV000303021 benign not specified criteria provided, single submitter clinical testing

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