ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.891+17G>C

gnomAD frequency: 0.00076  dbSNP: rs200793131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002190713 SCV002359200 benign Erythrocytosis, familial, 3 2024-01-24 criteria provided, single submitter clinical testing

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