Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001150678 | SCV001311766 | uncertain significance | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Ambry Genetics | RCV002559455 | SCV003715996 | uncertain significance | Inborn genetic diseases | 2022-12-06 | criteria provided, single submitter | clinical testing | The c.3184G>A (p.V1062I) alteration is located in exon 22 (coding exon 22) of the NBEAL2 gene. This alteration results from a G to A substitution at nucleotide position 3184, causing the valine (V) at amino acid position 1062 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Birmingham Platelet Group; University of Birmingham | RCV001270560 | SCV001450859 | uncertain significance | Abnormal bleeding; Thrombocytopenia | 2020-05-01 | no assertion criteria provided | research |