ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1458-13C>G

gnomAD frequency: 0.00093  dbSNP: rs371772243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079403 SCV000111282 uncertain significance not provided 2015-08-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079403 SCV001160360 benign not provided 2024-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520546 SCV001729668 benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2025-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000079403 SCV004165983 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing G6PD: BS2

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