Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078953 | SCV000755366 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000840164 | SCV000982083 | likely benign | not provided | 2020-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458018 | SCV002617442 | likely benign | Cardiovascular phenotype | 2019-09-19 | 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 |
RCV000840164 | SCV004139815 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | FKRP: BP4, BP7 |