Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001085530 | SCV001081705 | likely benign | Mucopolysaccharidosis type 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406518 | SCV002722114 | likely benign | Inborn genetic diseases | 2021-11-02 | 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. |
Mayo Clinic Laboratories, |
RCV000675617 | SCV000801315 | uncertain significance | not provided | 2017-04-12 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001085530 | SCV001454784 | likely benign | Mucopolysaccharidosis type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |