Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177420 | SCV000229276 | benign | not specified | 2014-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312724 | SCV000846287 | likely benign | Inborn genetic diseases | 2016-04-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV000904211 | SCV001048719 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000904211 | SCV001781703 | likely benign | not provided | 2020-03-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000177420 | SCV002066221 | benign | not specified | 2018-04-17 | criteria provided, single submitter | clinical testing |