Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409145 | SCV000489523 | likely benign | Generalized juvenile polyposis/juvenile polyposis coli | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001420974 | SCV001083824 | likely benign | Juvenile polyposis syndrome | 2023-03-31 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003316514 | SCV004017817 | likely benign | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 2023-04-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |