Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002522754 | SCV002973763 | likely benign | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | |
MVZ Praenatalmedizin und Genetik Nuernberg | RCV000456586 | SCV000503049 | likely benign | Stickler syndrome type 1 | 2017-02-28 | no assertion criteria provided | clinical testing | rare variant (ExAC) classified as likely benign (probably silent mutation): i) wobble base with low conservation, adenin on this position is probably evolutionary functional ii) multiple in silico analyses with benign consent |