ClinVar Miner

Submissions for variant NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln)

gnomAD frequency: 0.30935  dbSNP: rs6688832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636602 SCV001850371 benign not provided 2021-01-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12858176, 21050867, 20981092, 22306327)
Invitae RCV001636602 SCV002355044 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
OMIM RCV000017511 SCV000037783 uncertain significance Cortisone reductase deficiency 1 2008-10-01 no assertion criteria provided literature only

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