ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.865-16C>T

gnomAD frequency: 0.00005  dbSNP: rs199970830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180544 SCV000233008 uncertain significance not provided 2015-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054150 SCV002379253 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-10-28 criteria provided, single submitter clinical testing

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