Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697370 | SCV000717494 | benign | not provided | 2019-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315908 | SCV000848572 | benign | Inborn genetic diseases | 2016-10-04 | 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. |
Invitae | RCV000875118 | SCV001017398 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935655 | SCV004748234 | benign | ATP7A-related condition | 2019-05-31 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001834937 | SCV002089098 | benign | Menkes kinky-hair syndrome | 2019-12-12 | no assertion criteria provided | clinical testing |