ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2334A>G (p.Gln778=)

gnomAD frequency: 0.00011  dbSNP: rs117870452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001125180 SCV001005973 likely benign Glanzmann thrombasthenia 2023-04-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001125180 SCV001284219 benign Glanzmann thrombasthenia 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV004549943 SCV004751831 likely benign ITGA2B-related disorder 2020-03-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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