ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000262497 SCV000432907 benign Isolated Nonsyndromic Congenital Heart Disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000471378 SCV000557600 likely benign Alagille syndrome 1 2020-11-27 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 Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
GeneDx RCV001528251 SCV001939593 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11139239, 10220506, 11157803, 11058898, 26760175)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528251 SCV001739668 uncertain significance not provided no assertion criteria provided clinical testing

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