Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000343568 | SCV000335394 | uncertain significance | not provided | 2017-09-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000343568 | SCV001514499 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000343568 | SCV001874273 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | Reported in 5/3,352 alleles from a cohort of individuals with age-related macular degeneration in published literature, although it was also identified in 2/1,490 control alleles in this same study (Seddon et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24036952) |
Laboratory of Diagnostic Genome Analysis, |
RCV000343568 | SCV001979850 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000343568 | SCV001980183 | likely benign | not provided | no assertion criteria provided | clinical testing |