ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.1467G>A (p.Lys489=)

gnomAD frequency: 0.00003  dbSNP: rs200072483
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938492 SCV001084303 benign Immunodeficiency 23 2024-01-27 criteria provided, single submitter clinical testing

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