Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550422 | SCV000655049 | benign | Desbuquois dysplasia 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723535 | SCV001950598 | benign | not provided | 2020-09-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19014925, 16759312, 16571645) |
Genome- |
RCV002243615 | SCV002514050 | benign | Desbuquois dysplasia 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002643 | SCV000022801 | risk factor | Pseudoxanthoma elasticum, modifier of severity of | 2006-09-01 | no assertion criteria provided | literature only |