Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704758 | SCV000728462 | likely benign | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315936 | SCV000848726 | likely benign | Inborn genetic diseases | 2017-12-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV000868579 | SCV001009924 | likely benign | Rett syndrome, congenital variant | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704758 | SCV004129154 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | FOXG1: BS2 |