ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.871+1G>T

gnomAD frequency: 0.00001  dbSNP: rs886041044
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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 RCV000258853 SCV000322755 pathogenic Combined immunodeficiency 2016-10-01 no assertion criteria provided research Experimentally proven primary immunodeficiency; combined immunodeficiency
OMIM RCV000684760 SCV000812277 pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency 2018-09-28 no assertion criteria provided literature only

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