Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000885928 | SCV001029405 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000885928 | SCV001812293 | likely benign | not provided | 2023-10-02 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genome- |
RCV002253667 | SCV002524706 | benign | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539347 | SCV003680219 | likely benign | Inborn genetic diseases | 2022-03-21 | 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. |