Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039542 | SCV000063231 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Val551Ala in Exon 09 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 5.1% (157/3094) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs6889939). |
Center for Pediatric Genomic Medicine, |
RCV000224862 | SCV000281049 | benign | not provided | 2015-08-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039542 | SCV000728514 | benign | not specified | 2017-10-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000224862 | SCV000840652 | benign | not provided | 2018-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000224862 | SCV001110283 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001156569 | SCV001318077 | benign | Usher syndrome type 2C | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Fulgent Genetics, |
RCV002496629 | SCV002798370 | benign | Usher syndrome type 2C; Febrile seizures, familial, 4 | 2021-08-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000039542 | SCV000193246 | likely benign | not specified | no assertion criteria provided | clinical testing |