ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1622-6C>T

gnomAD frequency: 0.00001  dbSNP: rs1280128851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788371 SCV000927456 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Invitae RCV003631163 SCV004477474 likely benign Supravalvar aortic stenosis 2023-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535918 SCV004747274 likely benign ELN-related disorder 2021-07-26 criteria provided, single submitter 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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