Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000325404 | SCV000399340 | uncertain significance | Brittle cornea syndrome 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570952 | SCV001795329 | likely benign | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28622062) |
Ce |
RCV001570952 | SCV002063533 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ZNF469: BP4 |
Labcorp Genetics |
RCV001570952 | SCV002411479 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328838 | SCV002629576 | likely benign | Cardiovascular phenotype | 2022-05-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003972371 | SCV004788577 | likely benign | ZNF469-related disorder | 2022-04-04 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |