Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000084540 | SCV000575111 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | MAPT: BS2 |
Invitae | RCV001081972 | SCV000632355 | benign | Frontotemporal dementia | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000084540 | SCV001144472 | benign | not provided | 2019-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084540 | SCV001950553 | benign | not provided | 2019-07-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12615641, 17071927) |
Ambry Genetics | RCV002514504 | SCV003732476 | likely benign | Inborn genetic diseases | 2021-11-04 | 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. |
VIB Department of Molecular Genetics, |
RCV000084540 | SCV000116676 | not provided | not provided | no assertion provided | not provided | ||
Genome Diagnostics Laboratory, |
RCV000084540 | SCV001932208 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725968 | SCV001965277 | benign | not specified | no assertion criteria provided | clinical testing |