Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313625 | SCV000848770 | likely benign | Inborn genetic diseases | 2017-01-17 | 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 | RCV000968632 | SCV001116098 | benign | Rafiq syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816766 | SCV002072282 | likely benign | not specified | 2017-08-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437410 | SCV004163984 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | MAN1B1: BP4, BP7 |