ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1358-253G>A

gnomAD frequency: 0.00136  dbSNP: rs370619098
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001573522 SCV000532481 likely benign not provided 2021-10-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11735026, 15990952, 10942104)
Invitae RCV000627837 SCV000748719 likely benign Supravalvar aortic stenosis 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573522 SCV004185446 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ELN: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573522 SCV001799518 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573522 SCV001929569 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573522 SCV001965267 likely benign not provided no assertion criteria provided clinical testing

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