Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827982 | SCV000969656 | likely benign | not provided | 2020-06-09 | criteria provided, single submitter | clinical testing | Reported previously in association with familial exudative vitreoretinopathy, but the variant was inherited from an unaffected parent (Toomes et al., 2004; Li et al., 2018); Published functional studies demonstrate no damaging effect (Ai et al., 2005); This variant is associated with the following publications: (PMID: 22995991, 15923613, 16252235, 26348019, 15024691, 20340138, 24715757, 30452590) |
Invitae | RCV000827982 | SCV001412502 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing |