ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)

gnomAD frequency: 0.00289  dbSNP: rs181413143
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281014 SCV000444901 likely benign Gray platelet syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000893189 SCV001037107 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821049 SCV002071047 uncertain significance not specified 2019-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910360 SCV004724196 likely benign NBEAL2-related condition 2019-06-19 criteria provided, single submitter 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).
Birmingham Platelet Group; University of Birmingham RCV001270527 SCV001450826 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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