Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153124 | SCV000202584 | benign | not specified | 2014-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000153124 | SCV000302290 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000296245 | SCV000430268 | likely benign | Glaucoma 3A | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ce |
RCV000997117 | SCV001152234 | likely benign | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521679 | SCV001731065 | benign | Congenital glaucoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657869 | SCV001876479 | benign | Anterior segment dysgenesis 6 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000296245 | SCV001876480 | benign | Glaucoma 3A | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000997117 | SCV001950519 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15958554, 11854439, 15486049, 23861929, 10426814, 24604202) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000153124 | SCV002051047 | likely benign | not specified | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498727 | SCV002808437 | likely benign | Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 | 2022-05-12 | criteria provided, single submitter | clinical testing |