Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312327 | SCV000846380 | benign | Inborn genetic diseases | 2016-05-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV001653985 | SCV001870008 | benign | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001653985 | SCV002322040 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253580 | SCV002524720 | benign | ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 2021-12-05 | criteria provided, single submitter | clinical testing |