Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712310 | SCV000535307 | likely benign | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29338689, 30287823) |
Invitae | RCV000476795 | SCV000562942 | likely benign | Microcephaly, normal intelligence and immunodeficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571363 | SCV000662733 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-08 | 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. |
Natera, |
RCV000476795 | SCV001461784 | likely benign | Microcephaly, normal intelligence and immunodeficiency | 2020-09-16 | no assertion criteria provided | clinical testing |