Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152636 | SCV000201962 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | 486-13G>A in Intron 02 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (31/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs116367260). |
Illumina Laboratory Services, |
RCV001097551 | SCV001253841 | benign | Usher syndrome type 2A | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001097552 | SCV001253842 | uncertain significance | Retinitis pigmentosa | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV001520496 | SCV001729605 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001520496 | SCV001940507 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |