ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1216+7G>A

gnomAD frequency: 0.00001  dbSNP: rs541795999
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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 RCV000870431 SCV001011928 benign Erythrocytosis, familial, 3 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920386 SCV004734371 likely benign EGLN1-related disorder 2019-05-23 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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