Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503311 | SCV000593374 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311812 | SCV000847227 | likely benign | Inborn genetic diseases | 2016-08-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Gene |
RCV001707710 | SCV001935489 | benign | not provided | 2020-08-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807263 | SCV002054213 | benign | Coffin-Siris syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001707710 | SCV002401235 | benign | not provided | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001707710 | SCV004185403 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ARID1B: BP4, BP7, BS1 |