Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074079 | SCV001239648 | pathogenic | Retinal dystrophy | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091511 | SCV001247608 | pathogenic | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | ABCA4: PM3:Very Strong, PM2, PP3, PP4, PS3:Supporting |
Institute of Medical Molecular Genetics, |
RCV000408562 | SCV001548119 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001091511 | SCV002213757 | pathogenic | not provided | 2023-11-18 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 36 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Stargardt disease (PMID: 23918662, 28118664, 29848554). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236127). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV002247669 | SCV002516199 | likely pathogenic | Age related macular degeneration 2 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000408562 | SCV000281919 | uncertain significance | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | flagged submission | clinical testing | |
Clinical Genetics, |
RCV001091511 | SCV001919381 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001091511 | SCV001964888 | pathogenic | not provided | no assertion criteria provided | clinical testing |