Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000879174 | SCV001022188 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432867 | SCV004166988 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | IDS: BP4, BS2 |
Ambry Genetics | RCV004027923 | SCV004885438 | likely benign | Inborn genetic diseases | 2024-03-04 | 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, |
RCV001825780 | SCV002084498 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2021-02-21 | no assertion criteria provided | clinical testing |