Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000993157 | SCV001145932 | likely pathogenic | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | The variant disrupts a canonical splice site, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/276514 chr). |