ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)

dbSNP: rs886041043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klein lab, Ludwig-Maximilians-University RCV000258850 SCV000322745 pathogenic Combined immunodeficiency 2016-10-01 no assertion criteria provided research Experimentally proven primary immunodeficiency; combined immunodeficiency
OMIM RCV000684759 SCV000812276 pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency 2018-10-01 no assertion criteria provided literature only

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