Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080878 | SCV000112780 | likely benign | not specified | 2014-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000861325 | SCV001001604 | benign | Spastic paraplegia | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001682773 | SCV001903380 | benign | not provided | 2019-12-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371927 | SCV002625006 | likely benign | Inborn genetic diseases | 2014-06-30 | 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. |
Ce |
RCV001682773 | SCV004166402 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | KDM5C: BP4, BP7, BS2 |