Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810592 | SCV000950809 | likely benign | Kleefstra syndrome 1 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440746 | SCV002748759 | likely benign | Inborn genetic diseases | 2018-03-20 | 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. |
Gene |
RCV003318642 | SCV004023038 | uncertain significance | not provided | 2023-01-27 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV003318642 | SCV004164077 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | EHMT1: BS2 |