Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre of Medical Genetics, |
RCV002246040 | SCV002025362 | pathogenic | Marfan syndrome | 2021-03-01 | criteria provided, single submitter | research | PM2, PVS2, PP4 |
Dr. |
RCV002246040 | SCV004037244 | likely pathogenic | Marfan syndrome | 2019-12-14 | criteria provided, single submitter | clinical testing | The variant is not present in gnomAD. It was detected in an individual with suspected Marfan syndrome. Several other missense variants of this codon have been reported to be pathogenic. In silico analysis strongly support a damaging effect of the variant. We therefore classify it as likely pathogenic. |