ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.864+163C>T

gnomAD frequency: 0.09646  dbSNP: rs5986990
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001677881 SCV001894770 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Dunham Lab, University of Washington RCV002305620 SCV002599148 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-08-12 criteria provided, single submitter curation Variant found at a frequency of 8.5% in gnomAD (BA1) and previously interpreted as benign (BP6).
Breakthrough Genomics, Breakthrough Genomics RCV001677881 SCV005276529 benign not provided criteria provided, single submitter not provided

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