ClinVar Miner

Submissions for variant NM_000211.4(ITGB2):c.742-13G>A (rs5030670)

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Total submissions: 3
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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 RCV000087124 SCV000119985 untested Leukocyte adhesion deficiency type 1 no assertion provided not provided Converted during submission to not provided.
Illumina Clinical Services Laboratory,Illumina RCV000319848 SCV000436317 likely benign Leukocyte adhesion deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455424 SCV000539405 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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