Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
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. |
| Labcorp Genetics |
RCV000893189 | SCV001037107 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV001821049 | SCV002071047 | uncertain significance | not specified | 2019-05-20 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003910360 | SCV004724196 | likely benign | NBEAL2-related disorder | 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). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001821049 | SCV005039282 | likely benign | not specified | 2024-03-21 | criteria provided, single submitter | clinical testing | Variant summary: NBEAL2 c.6866G>A (p.Arg2289Gln) results in a conservative amino acid change located in the BEACH domain (IPR000409) of the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0029 in 249022 control chromosomes in the gnomAD database, including 1 homozygote. To our knowledge, no occurrence of c.6866G>A in individuals affected with Gray Platelet Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 345683). Based on the evidence outlined above, the variant was classified as likely benign. |
| Birmingham Platelet Group; University of Birmingham | RCV001270527 | SCV001450826 | uncertain significance | Abnormal bleeding; Thrombocytopenia | 2020-05-01 | no assertion criteria provided | research |