Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514053 | SCV000610640 | likely benign | not provided | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311834 | SCV000846307 | benign | Inborn genetic diseases | 2016-04-26 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 | RCV000514053 | SCV001101339 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514053 | SCV001867595 | benign | not provided | 2020-10-27 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821444 | SCV002071503 | benign | not specified | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514053 | SCV002545614 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | KAT6A: BP4, BS1, BS2 |
Fulgent Genetics, |
RCV002496984 | SCV002804435 | likely benign | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2021-12-30 | criteria provided, single submitter | clinical testing |