Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029698 | SCV000052351 | likely pathogenic | Marfan syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Centre of Medical Genetics, |
RCV000029698 | SCV002025511 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS1, PP4 |