Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000114270 | SCV000147829 | benign | not specified | 2017-08-09 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000430336 | SCV000610044 | likely benign | not provided | 2017-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312004 | SCV000846498 | benign | Inborn genetic diseases | 2018-07-16 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV000430336 | SCV001720278 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000430336 | SCV001869274 | benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000430336 | SCV004185402 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ARID1B: BS1, BS2 |