ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.813G>A (p.Val271=)

gnomAD frequency: 0.00004  dbSNP: rs782732134
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001055244 SCV001219623 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721729 SCV005331469 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing G6PD: BP4

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