Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989952 | SCV001140698 | benign | Spondylo-ocular syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001642196 | SCV001859893 | benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16571645) |
Invitae | RCV001642196 | SCV002358765 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000989952 | SCV002514059 | benign | Spondylo-ocular syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002276528 | SCV002565090 | benign | Osteogenesis imperfecta | 2022-07-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002642 | SCV000022800 | risk factor | Pseudoxanthoma elasticum, modifier of severity of | 2006-09-01 | no assertion criteria provided | literature only |