ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln)

dbSNP: rs1567629943
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000684756 SCV000812273 pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency 2018-09-28 no assertion criteria provided literature only

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