Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246131 | SCV000312982 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000865305 | SCV001006248 | likely benign | CHARGE association | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576877 | SCV001804149 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362738 | SCV004056286 | likely benign | Inborn genetic diseases | 2023-06-19 | 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. |