ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)

gnomAD frequency: 0.00002  dbSNP: rs782170250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098061 SCV002389177 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-11-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893271 SCV004711973 likely benign G6PD-related disorder 2021-05-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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