ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.715G>C (p.Asp239His)

dbSNP: rs869312886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210409 SCV000266397 pathogenic Immunodeficiency 23 2014-07-03 criteria provided, single submitter research segregates with the phenotype in an affected family
OMIM RCV000210409 SCV000172677 pathogenic Immunodeficiency 23 2014-07-03 no assertion criteria provided literature only

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