ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1023C>T (p.Val341=)

gnomAD frequency: 0.00003  dbSNP: rs201321423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403845 SCV001605730 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-11-21 criteria provided, single submitter clinical testing

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