Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723670 | SCV000114853 | uncertain significance | not provided | 2013-08-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082805 | SCV000595999 | likely benign | not specified | 2016-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514452 | SCV001005986 | benign | Nance-Horan syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336241 | SCV002642336 | likely benign | Inborn genetic diseases | 2018-07-23 | 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. |
Ce |
RCV000723670 | SCV004166617 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | NHS: BP4, BP7, BS2 |