ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.229G>A (p.Asp77Asn)

gnomAD frequency: 0.00317  dbSNP: rs141799330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436640 SCV000521185 likely benign not specified 2016-02-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000555462 SCV000634162 benign Leukocyte adhesion deficiency 1 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000555462 SCV001299075 benign Leukocyte adhesion deficiency 1 2017-04-28 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.

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