Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000336625 | SCV000335726 | benign | not specified | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000336625 | SCV000730376 | benign | not specified | 2017-02-27 | 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. |
Invitae | RCV002059129 | SCV002409493 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244731 | SCV002514244 | benign | Brittle cornea syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000336625 | SCV002548194 | likely benign | not specified | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278279 | SCV002565445 | benign | Ehlers-Danlos syndrome | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374460 | SCV002686920 | benign | Cardiovascular phenotype | 2019-03-21 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |