ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.930C>T (p.Ala310=)

gnomAD frequency: 0.00025  dbSNP: rs147367888
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269825 SCV000469884 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324956 SCV000469885 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659073 SCV000780882 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing ELN: BP4, BP7
GeneDx RCV000659073 SCV001793143 likely benign not provided 2020-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000269825 SCV002328463 likely benign Supravalvar aortic stenosis 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544695 SCV004794845 likely benign ELN-related disorder 2019-03-27 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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