ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.4195+39C>T

gnomAD frequency: 0.02956  dbSNP: rs117444844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769838 SCV002004762 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001794517 SCV002033640 benign Severe combined immunodeficiency due to CARMIL2 deficiency 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001769838 SCV005218583 likely benign not provided criteria provided, single submitter not provided

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