ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) (rs145895196)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195553 SCV000250453 likely benign not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000195553 SCV000303022 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428738 SCV000510968 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000195553 SCV000700821 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617476 SCV000736436 likely benign Cardiovascular phenotype 2017-07-20 criteria provided, single submitter clinical testing in silico models in agreement (benign);Subpopulation frequency in support of benign classification
SIB Swiss Institute of Bioinformatics RCV000755751 SCV000883285 benign Alagille syndrome 1 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Benign, for Alagille syndrome 1, autosomal dominant. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS3 => Well-established in vitro or in vivo functional studies show no damaging effect on protein function or splicing (
Invitae RCV000755751 SCV001001780 benign Alagille syndrome 1 2020-11-21 criteria provided, single submitter clinical testing
Mendelics RCV000755751 SCV001141219 benign Alagille syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138547 SCV001298608 benign Isolated Nonsyndromic Congenital Heart Disease 2018-03-06 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.

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