ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.486-60C>G (rs2515904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001642221 SCV001861134 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
OMIM RCV000011095 SCV000031322 pathogenic Glucose 6 phosphate dehydrogenase deficiency 1979-09-28 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000011095 SCV001142506 benign Glucose 6 phosphate dehydrogenase deficiency 2020-01-06 no assertion criteria provided curation NG_009015.2(NM_001042351.2):c.486-60C>G in the gene G6PD has an allele frequency of 0.155 in African subpopulation in the gnomAD database. A total of 43 homozygous and 316 hemizygotes occurrences are observed in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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