Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001291576 | SCV001480112 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332344 | SCV001524639 | pathogenic | Coffin-Siris syndrome 1 | 2019-09-02 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Baylor Genetics | RCV001533034 | SCV001748853 | pathogenic | ARID1B-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001332344 | SCV002054297 | pathogenic | Coffin-Siris syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing |