ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1358-225T>C

gnomAD frequency: 0.00036  dbSNP: rs375867140
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002539015 SCV001010155 likely benign Supravalvar aortic stenosis 2024-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000868785 SCV001794257 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV004538278 SCV004709340 likely benign ELN-related disorder 2022-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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