Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000345743 | SCV000476933 | uncertain significance | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000500672 | SCV000593939 | likely benign | not specified | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000964421 | SCV000714510 | benign | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000964421 | SCV001111627 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000964421 | SCV002546079 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CDK5RAP2: BP4, BS2 |
Ambry Genetics | RCV002523724 | SCV003536998 | likely benign | Inborn genetic diseases | 2022-09-20 | 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. |