ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617476 SCV000736436 likely benign Cardiovascular phenotype 2017-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,in silico models in agreement (benign)
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
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.
Illumina Clinical Services Laboratory,Illumina RCV000278407 SCV000432893 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000195553 SCV000303022 benign not specified criteria provided, single submitter clinical testing
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 (https://www.ncbi.nlm.nih.gov/pubmed/20437614).

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