ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.745G>A (p.Glu249Lys)

dbSNP: rs2052613710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330120 SCV001521726 uncertain significance Severe combined immunodeficiency due to CARMIL2 deficiency 2020-04-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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