ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)

gnomAD frequency: 0.00004  dbSNP: rs138919671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393327 SCV000343725 uncertain significance not provided 2016-07-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000393327 SCV001962679 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Invitae RCV002059264 SCV002420752 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-09-22 criteria provided, single submitter clinical testing

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