ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)

dbSNP: rs750610248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Puck Laboratory, University of California, San Francisco RCV000241534 SCV000297993 pathogenic Combined immunodeficiency 2016-03-01 no assertion criteria provided research
OMIM RCV000412543 SCV000490286 pathogenic Immunodeficiency 49 2018-08-28 no assertion criteria provided literature only

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