Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041898 | SCV000065594 | benign | not specified | 2008-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041898 | SCV000169755 | benign | not specified | 2013-01-07 | 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. |
Eurofins Ntd Llc |
RCV000041898 | SCV000230492 | benign | not specified | 2014-09-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000126255 | SCV000884846 | benign | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000126255 | SCV001146620 | benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001097446 | SCV001253728 | 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV000126255 | SCV001721096 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041898 | SCV002104144 | likely benign | not specified | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000126255 | SCV004042463 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | USH2A: BP4, BS1, BS2 |
Dept Of Ophthalmology, |
RCV003888405 | SCV004708081 | benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000126255 | SCV000172668 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Natera, |
RCV001273813 | SCV001457329 | benign | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |