Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415035 | SCV000492719 | pathogenic | Nystagmus; Abnormal electroretinogram | 2014-07-11 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000498183 | SCV000678190 | pathogenic | Achromatopsia 3 | 2015-09-03 | criteria provided, single submitter | clinical testing | |
Institute for Ophthalmic Research, |
RCV000592388 | SCV000700210 | pathogenic | Achromatopsia | 2018-03-20 | criteria provided, single submitter | research | |
EGL Genetic Diagnostics, |
RCV000727187 | SCV000706474 | pathogenic | not provided | 2017-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727187 | SCV000959880 | pathogenic | not provided | 2019-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg274Valfs*13) in the CNGB3 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to be homozygous or in combination with another CNGB3 variant in individuals affected with achromatopsia or an inherited retinal dystrophy (PMID: 10888875, 20079539, 29769798). This variant is also known as Pro160 del8bp, c.819_826del8 in the literature. ClinVar contains an entry for this variant (Variation ID: 374027). Loss-of-function variants in CNGB3 are known to be pathogenic (PMID: 15657609). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074298 | SCV001239871 | pathogenic | Retinal dystrophy | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727187 | SCV001245905 | pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000498183 | SCV001368242 | pathogenic | Achromatopsia 3 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. |
Institute for Ophthalmic Research, |
RCV000498183 | SCV000575785 | pathogenic | Achromatopsia 3 | 2017-03-27 | no assertion criteria provided | research | |
NIHR Bioresource Rare Diseases, |
RCV000504685 | SCV000598866 | pathogenic | Leber congenital amaurosis | 2015-01-01 | no assertion criteria provided | research | |
Human Genetics - |
RCV000504685 | SCV000804626 | pathogenic | Leber congenital amaurosis | 2016-09-01 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000592388 | SCV001454553 | pathogenic | Achromatopsia | 2020-09-16 | no assertion criteria provided | clinical testing |