Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002055366 | SCV002490204 | benign | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542891 | SCV004763787 | likely benign | KMT2C-related disorder | 2023-07-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Ambry Genetics | RCV004019686 | SCV004894757 | likely benign | Inborn genetic diseases | 2021-09-22 | 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. |
ITMI | RCV000121498 | SCV000085692 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |