Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000333245 | SCV000344522 | uncertain significance | not provided | 2016-09-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317822 | SCV000850758 | likely benign | Inborn genetic diseases | 2016-09-01 | 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. |
Invitae | RCV001085996 | SCV001022512 | likely benign | Smith-Lemli-Opitz syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000333245 | SCV001764241 | likely benign | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001085996 | SCV001460486 | likely benign | Smith-Lemli-Opitz syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |