Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002318758 | SCV000850112 | likely benign | Inborn genetic diseases | 2017-09-21 | 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 | RCV000875069 | SCV001017341 | likely benign | KBG syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572981 | SCV001867194 | benign | not provided | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000875069 | SCV002525185 | benign | KBG syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001572981 | SCV002545830 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | ANKRD11: BP4, BS1 |
Centre de Biologie Pathologie Génétique, |
RCV001252406 | SCV001428161 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001572981 | SCV001798190 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001572981 | SCV001971059 | likely benign | not provided | no assertion criteria provided | clinical testing |