Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516719 | SCV000613859 | likely benign | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316469 | SCV000851611 | likely benign | Inborn genetic diseases | 2017-03-24 | 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. |
Invitae | RCV001406815 | SCV001608773 | likely benign | EAST syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516719 | SCV001763808 | likely benign | not provided | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821452 | SCV002065566 | likely benign | not specified | 2017-12-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496999 | SCV002807837 | likely benign | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome | 2022-02-02 | criteria provided, single submitter | clinical testing |