Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487550 | SCV000575663 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318593 | SCV000849678 | benign | Inborn genetic diseases | 2017-05-30 | 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. |
Invitae | RCV001081450 | SCV001006270 | benign | Mucopolysaccharidosis, MPS-II | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081450 | SCV002014455 | benign | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001530082 | SCV001744683 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000487550 | SCV001798124 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001530082 | SCV001921790 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001530082 | SCV001932089 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001530082 | SCV001965075 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001829395 | SCV002084482 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2020-01-31 | no assertion criteria provided | clinical testing |