Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864901 | SCV001005781 | benign | Mucopolysaccharidosis, MPS-II | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363222 | SCV002663296 | benign | Inborn genetic diseases | 2017-11-29 | 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. |
Prevention |
RCV003965688 | SCV004785279 | likely benign | IDS-related disorder | 2019-09-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001825721 | SCV002084486 | likely benign | Mucopolysaccharidosis, MPS-III-A | 2020-03-12 | no assertion criteria provided | clinical testing |