ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.381G>A (p.Ala127=)

gnomAD frequency: 0.00019  dbSNP: rs148216123
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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 RCV001442540 SCV001645489 likely benign Supravalvar aortic stenosis 2025-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495620 SCV002802513 likely benign Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2022-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533743 SCV004722773 likely benign ELN-related disorder 2019-08-02 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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