ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.440-15T>C

gnomAD frequency: 0.42936  dbSNP: rs2273060
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000196823 SCV000303033 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362940 SCV000432946 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520997 SCV001730244 benign Alagille syndrome due to a JAG1 point mutation 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730584 SCV001980837 benign Deafness, congenital heart defects, and posterior embryotoxon 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520997 SCV001980838 benign Alagille syndrome due to a JAG1 point mutation 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730583 SCV001980839 benign Tetralogy of Fallot 2021-08-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000196823 SCV003928849 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717082 SCV005312351 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000196823 SCV001925534 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000196823 SCV001951944 benign not specified no assertion criteria provided clinical testing

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