ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.486-34del

dbSNP: rs3216174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507442 SCV000603771 benign not specified 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510340 SCV001717355 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683537 SCV001899682 benign not provided 2018-07-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30077011, 26829728)
Dunham Lab, University of Washington RCV001510340 SCV002599406 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found in unrelated hemizygotes with deficiency (PS4_M, PP4). Decreased activity in red blood cells (PS3). Reported as benign by multiple clinical testing groups (BP6). Post_P 0.89997 (odds of pathogenicity 80.97, Prior_P 0.1).

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