ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.*272G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dunham Lab, University of Washington RCV002305776 SCV002599155 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Not predicted to alter mRNA folding or miRNA target sites (BP4). Only occurances in individuals with deficiency have other SNVs that were found alone to contribute to deficiency (BP5). Post_P 0.025 (odds of pathogenicity 0.231, Prior_P 0.1).

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