Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000585638 | SCV000693450 | likely pathogenic | Disproportionate tall stature | 2017-06-12 | criteria provided, single submitter | clinical testing | This variant in the SKI gene was identified in a female patient with suspicion of Marfan syndrome and familial migraine. There were no variants in the FBN1, TGFBR1 and TGFBR2 genes, as assessed by exome sequencing (NGS) and MLPA analysis |