ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2060G>A (p.Gly687Glu)

gnomAD frequency: 0.00006  dbSNP: rs139547471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865842 SCV001006866 likely benign Supravalvar aortic stenosis 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432807 SCV004162261 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ELN: BS1
PreventionGenetics, part of Exact Sciences RCV003908216 SCV004726525 likely benign ELN-related condition 2022-04-22 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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