Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698402 | SCV000726001 | likely benign | not provided | 2021-01-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000640912 | SCV000762516 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431806 | SCV002742893 | benign | Inborn genetic diseases | 2017-09-29 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |