Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200691 | SCV000255121 | uncertain significance | Bardet-Biedl syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with phenylalanine at codon 382 of the BBS10 protein (p.Val382Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant has not been reported in the literature in individuals affected with BBS10-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Counsyl | RCV000669185 | SCV000793912 | uncertain significance | Bardet-Biedl syndrome 10 | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000669185 | SCV002091775 | uncertain significance | Bardet-Biedl syndrome 10 | 2021-10-19 | no assertion criteria provided | clinical testing |