ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu)

gnomAD frequency: 0.00049  dbSNP: rs147839743
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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 RCV000556405 SCV000641187 benign Erythrocytosis, familial, 3 2023-04-27 criteria provided, single submitter clinical testing

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