ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.688-32C>T

gnomAD frequency: 0.11931  dbSNP: rs59376497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794905 SCV002033637 benign Severe combined immunodeficiency due to CARMIL2 deficiency 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710377 SCV005255282 benign not provided criteria provided, single submitter not provided

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