Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193588 | SCV000247887 | uncertain significance | not specified | 2015-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000913240 | SCV001058383 | likely benign | Rafiq syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381653 | SCV002691535 | likely benign | Inborn genetic diseases | 2018-07-14 | 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 |
RCV003436992 | SCV004163981 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | MAN1B1: BP4, BP7 |