Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690891 | SCV000818620 | benign | CHARGE association | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315991 | SCV000847575 | likely benign | Inborn genetic diseases | 2017-11-13 | 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. |
Athena Diagnostics Inc | RCV000991793 | SCV001143545 | likely benign | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000991793 | SCV001887842 | likely benign | not provided | 2020-09-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21158681) |