Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229326 | SCV000290938 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000254415 | SCV000314624 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001546593 | SCV001766134 | likely benign | not provided | 2020-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001546593 | SCV004033675 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | B9D2: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV001546593 | SCV001932055 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001546593 | SCV001964805 | likely benign | not provided | no assertion criteria provided | clinical testing |