ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.668_673dup (p.Asp224_Glu225insGlyAsp)

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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 RCV003502497 SCV004313909 uncertain significance Erythrocytosis, familial, 3 2023-05-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.668_673dup, results in the insertion of 2 amino acid(s) of the EGLN1 protein (p.Gly223_Asp224dup), but otherwise preserves the integrity of the reading frame.

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