Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000876656 | SCV000329274 | benign | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000372172 | SCV000335409 | likely benign | not specified | 2015-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317796 | SCV000850805 | likely benign | Inborn genetic diseases | 2018-06-12 | 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. |
Invitae | RCV000876656 | SCV001019254 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003909899 | SCV004718592 | likely benign | CHD8-related condition | 2019-10-23 | 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). |