ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) (rs147809756)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262497 SCV000432907 likely benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317871 SCV000432908 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471378 SCV000557600 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595286 SCV000704671 likely benign not specified 2017-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620807 SCV000735310 likely benign Cardiovascular phenotype 2018-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype

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