ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1143del (p.Tyr382fs)

dbSNP: rs483352817
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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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 RCV000087109 SCV000119970 pathogenic Leukocyte adhesion deficiency 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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