ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2086+5G>C

gnomAD frequency: 0.02303  dbSNP: rs111866046
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Total submissions: 9
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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 RCV000199498 SCV000269078 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2086+5G>C in intron 31 of ELN: This variant is not expected to have clinical sig nificance because it has been identified in 6.6% (290/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs111866046).
PreventionGenetics, part of Exact Sciences RCV000199498 SCV000304575 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272146 SCV000469944 benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000528954 SCV000469945 benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528954 SCV000622205 benign Supravalvar aortic stenosis 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492890 SCV002799475 benign Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2022-04-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000199498 SCV004813834 benign not specified 2024-02-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000199498 SCV002035246 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795316 SCV002036135 likely benign not provided no assertion criteria provided clinical testing

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