Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174895 | SCV000226288 | benign | not specified | 2015-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313034 | SCV000848154 | likely benign | Inborn genetic diseases | 2016-11-03 | 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 | RCV000895202 | SCV001039231 | benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000895202 | SCV001929826 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000895202 | SCV001966771 | likely benign | not provided | no assertion criteria provided | clinical testing |