Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000370260 | SCV000337481 | uncertain significance | not provided | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317812 | SCV000849557 | likely benign | Inborn genetic diseases | 2017-05-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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 | RCV000370260 | SCV001018068 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000370260 | SCV001909079 | benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000370260 | SCV004129018 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | CHD8: BS1, BS2 |