ClinVar Miner

Submissions for variant NM_015175.3(NBEAL2):c.3384+5G>A

gnomAD frequency: 0.00148  dbSNP: rs370559049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953196 SCV001099756 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144585 SCV001305196 likely benign Gray platelet syndrome 2018-01-12 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.
PreventionGenetics, part of Exact Sciences RCV003413755 SCV004115277 uncertain significance NBEAL2-related disorder 2023-06-07 criteria provided, single submitter clinical testing The NBEAL2 c.3384+5G>A variant is predicted to interfere with splicing. This variant has been reported in the compound heterozygous state in an individual with grey platelet syndrome and interpreted it as likely pathogenic (Saliba et al 2020. PubMed ID: 32567678). This variant is reported in 0.25% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-47040374-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV000953196 SCV005409195 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing BS1

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