ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.737dup (p.Asn246fs) (rs587777564)

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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 RCV000128846 SCV000266400 pathogenic Immunodeficiency 23 2014-07-03 criteria provided, single submitter research segregates with the phenotype in an affected family
OMIM RCV000128846 SCV000172678 pathogenic Immunodeficiency 23 2014-07-03 no assertion criteria provided literature only

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