Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Lab, |
RCV000761570 | SCV000890135 | likely benign | Marfan syndrome | 2019-03-14 | criteria provided, single submitter | clinical testing | The c.8C>T (p.Ala3Val) variant in TGFBR1 is very rare (not reported in population databases) but has a benign computational verdict. Furthermore, the patient who carried this variant had a clinical diagnosis of Marfan syndrome, which was confirmed by MLPA analysis, that identified an intragenic deletion of FBN1. |