ClinVar Miner

Submissions for variant NM_001079.3(ZAP70):c.574C>T (p.Arg192Trp) (rs199840952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000227350 SCV000291922 pathogenic Autoimmune disease, multisystem, infantile-onset, 2 2019-03-18 no assertion criteria provided literature only
Puck Laboratory, University of California, San Francisco RCV000208562 SCV000258322 pathogenic Combined immunodeficiency 2015-10-01 criteria provided, single submitter research

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