ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.462T>A (p.Cys154Ter)

dbSNP: rs1572952530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790942 SCV000930194 pathogenic Immunodeficiency, common variable, 7 2019-04-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000790942 SCV001593261 pathogenic Immunodeficiency, common variable, 7 2021-05-12 criteria provided, single submitter clinical testing

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