ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.711G>A (p.Leu237=)

gnomAD frequency: 0.00006  dbSNP: rs367795312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105595 SCV002393225 likely benign Specific granule deficiency 2021-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895779 SCV004715812 likely benign CEBPE-related disorder 2023-09-21 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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