Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001394387 | SCV001596071 | likely benign | Smith-Lemli-Opitz syndrome | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350749 | SCV002652259 | likely benign | Inborn genetic diseases | 2020-03-25 | 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. |
Fulgent Genetics, |
RCV001394387 | SCV002803202 | likely benign | Smith-Lemli-Opitz syndrome | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973230 | SCV004788917 | likely benign | DHCR7-related condition | 2019-04-09 | 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). |