ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.329-6C>T (rs9983887)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000087116 SCV000436327 likely benign Leukocyte adhesion deficiency 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000087116 SCV000634166 benign Leukocyte adhesion deficiency 1 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000087116 SCV001141306 likely benign Leukocyte adhesion deficiency 1 2019-05-28 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000087116 SCV000119977 pathogenic Leukocyte adhesion deficiency 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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