Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000291809 | SCV000339844 | uncertain significance | not provided | 2016-02-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001493916 | SCV001698560 | likely benign | Smith-Lemli-Opitz syndrome | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002307479 | SCV002600726 | likely benign | not specified | 2022-10-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348006 | SCV002619699 | likely benign | Inborn genetic diseases | 2022-08-01 | 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. |
Natera, |
RCV001493916 | SCV002093060 | likely benign | Smith-Lemli-Opitz syndrome | 2018-01-18 | no assertion criteria provided | clinical testing |