ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.3827G>A (p.Arg1276Lys)

dbSNP: rs779323055
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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 RCV001330119 SCV001521725 uncertain significance Severe combined immunodeficiency due to CARMIL2 deficiency 2019-12-11 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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