Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000156853 | SCV000206574 | benign | not specified | 2014-10-17 | criteria provided, single submitter | clinical testing | c.2241-10A>T in intron 11 of GPR98: This variant is not expected to have clinica l significance because it does not cause the splice site sequence to diverge fro m consensus. It has been identified in 5.1% (9/178) of Japanese chromosomes and 1.0% (2/194) of Han Chinese chromosomes by the 1000 Genomes Project (dbSNP rs150 996234). |
| Gene |
RCV000156853 | SCV000717996 | likely benign | not specified | 2017-11-24 | 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 | RCV000710443 | SCV000840661 | benign | not provided | 2018-03-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000710443 | SCV001047572 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV001154173 | SCV001315508 | likely benign | Usher syndrome, type 2C | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |