Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876194 | SCV001018731 | 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 | |
Gene |
RCV001692311 | SCV001911367 | benign | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399963 | SCV002711800 | benign | Inborn genetic diseases | 2017-05-31 | 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. |
Prevention |
RCV003908329 | SCV004725957 | benign | ATP7A-related condition | 2020-02-05 | 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, |
RCV001274232 | SCV001458105 | uncertain significance | Menkes kinky-hair syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |