ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.270G>T (p.Gly90=)

gnomAD frequency: 0.02490  dbSNP: rs114048678
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035332 SCV000058980 benign not specified 2011-03-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000035332 SCV000303019 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000035332 SCV000343906 benign not specified 2016-08-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286199 SCV000432956 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000458444 SCV000557607 benign Alagille syndrome due to a JAG1 point mutation 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001689583 SCV001911748 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689583 SCV005207375 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000035332 SCV001923983 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000035332 SCV001953735 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000035332 SCV001973325 benign not specified no assertion criteria provided clinical testing

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