Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703550 | SCV000832453 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548052 | SCV001767901 | likely benign | not provided | 2018-10-31 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28492532) |
Ambry Genetics | RCV004026632 | SCV004887958 | likely benign | Inborn genetic diseases | 2024-01-08 | 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. |