Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000435881 | SCV000225390 | likely benign | not specified | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000435881 | SCV000512655 | likely benign | not specified | 2016-11-09 | 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. |
Genomic Research Center, |
RCV000501136 | SCV000588362 | pathogenic | Abnormality of the eye | 2017-06-18 | criteria provided, single submitter | clinical testing | |
Institute for Ophthalmic Research, |
RCV000597492 | SCV000700212 | pathogenic | Achromatopsia | 2018-03-20 | criteria provided, single submitter | research | |
Invitae | RCV000132679 | SCV001105918 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001164460 | SCV001326587 | likely benign | Stargardt disease 1 | 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. |
Broad Institute Rare Disease Group, |
RCV001164460 | SCV001435146 | likely benign | Stargardt disease 1 | criteria provided, single submitter | research | The p.Arg403Gln variant in CNGB3 has been identified in 3 homozygous Pakistani individuals with progressive cone dystrophy, 1 homozygous Pakistani individual with complete achromatopsia, and in the heterozygous state in 1 individual with progressive cone dystrophy, segregated with eye disease in 4 relatives from 1 family (PMID: 15161866, 24504161), and has been identified in >2% of South Asian chromosomes and 13 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Arg403Gln variant may slightly impact protein function (PMID: 16379026). However, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive progressive cone dystrophy. | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132679 | SCV000172631 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Institute for Ophthalmic Research, |
RCV000174144 | SCV000575809 | likely pathogenic | Achromatopsia 3 | 2017-03-27 | no assertion criteria provided | research | |
Human Genetics - |
RCV000678546 | SCV000804624 | uncertain significance | Retinitis pigmentosa | 2016-09-01 | no assertion criteria provided | clinical testing | |
Sharon lab, |
RCV000597492 | SCV001161027 | pathogenic | Achromatopsia | 2019-06-23 | no assertion criteria provided | research |