ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.690C>T (p.Ile230=)

gnomAD frequency: 0.00005  dbSNP: rs781917123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873098 SCV001015030 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-12-23 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV000873098 SCV002599147 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-12-05 criteria provided, single submitter curation Variant found in hemizygote without G6PD deficiency and the activity in red blood cells is within the normal range (BS2). Previously interpreted as bening (BP6). Post_P 0.0028 (odds of pathogenicity 0.026, Prior_P 0.1).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330982 SCV004038482 likely benign not specified 2023-08-09 criteria provided, single submitter clinical testing

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