ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.588C>T (p.Cys196=) (rs1801138)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035336 SCV000058984 benign not specified 2011-12-08 criteria provided, single submitter clinical testing Classified as benign based on high population frequency (dbSNP rs1801138, MAF>3% , various cohorts).
PreventionGenetics,PreventionGenetics RCV000035336 SCV000303034 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247154 SCV000318134 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing 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 RCV000393076 SCV000432941 benign Isolated Nonsyndromic Congenital Heart Disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000305392 SCV000432942 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000125427 SCV000172510 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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