ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.349C>A (p.Leu117Met)

gnomAD frequency: 0.00024  dbSNP: rs190279776
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885327 SCV001028762 benign Immunodeficiency 23 2024-01-28 criteria provided, single submitter clinical testing

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