Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000247812 | SCV000317908 | pathogenic | Cardiovascular phenotype | 2012-11-08 | criteria provided, single submitter | clinical testing | |
Center for Medical Genetics Ghent, |
RCV000664013 | SCV000787400 | pathogenic | Marfan syndrome | 2017-11-07 | no assertion criteria provided | clinical testing | |
de |
RCV000664013 | SCV004022205 | likely pathogenic | Marfan syndrome | 2023-07-21 | no assertion criteria provided | research | The variant NM_000138.5:c.8149G>T (chr15:48412646) in FBN1 was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic. |