Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001250512 | SCV001425303 | likely pathogenic | Okur-Chung neurodevelopmental syndrome | 2020-03-06 | criteria provided, single submitter | clinical testing | CSNK2A1 c.367-1G>A is absent from a large population dataset, and has not been reported in ClinVar nor the literature, to our knowledge. This variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing. We consider this variant to be likely pathogenic. |