ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.33A>G (p.Ala11=)

gnomAD frequency: 0.00411  dbSNP: rs150763574
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532815 SCV000655099 benign Immunodeficiency 23 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000532815 SCV002795710 likely benign Immunodeficiency 23 2022-01-17 criteria provided, single submitter clinical testing

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