Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000039645 | SCV000063334 | benign | not specified | 2012-01-20 | criteria provided, single submitter | clinical testing | Ala2803Thr in exon 37 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.66% (112/6714) of European Americ an chromosomes and 0.43% (14/3234) of African American chromosomes by the NHLBI Exome sequencing project in a broad population in a broad population (http://evs .gs.washington.edu/EVS, rs111033530, http://evidence.personalgenomes.org/GPR98-A 2803T). |
| Gene |
RCV000039645 | SCV000168713 | benign | not specified | 2013-04-12 | 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 | RCV000710464 | SCV000840690 | likely benign | not provided | 2017-11-16 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV001282751 | SCV001158946 | benign | none provided | 2020-08-24 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV001154700 | SCV001316080 | likely benign | Usher syndrome, type 2C | 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 | RCV000710464 | SCV001721600 | benign | not provided | 2020-11-29 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV000039645 | SCV000193294 | likely benign | not specified | no assertion criteria provided | clinical testing |