Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727096 | SCV000705640 | uncertain significance | not provided | 2017-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727096 | SCV000715057 | likely benign | not provided | 2020-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088953 | SCV001098753 | benign | Orofacial-digital syndrome IV; Joubert syndrome 18 | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002531055 | SCV003555191 | likely benign | Inborn genetic diseases | 2021-06-17 | 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. |