Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419740 | SCV000512700 | benign | not specified | 2016-01-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002230235 | SCV000631457 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002230235 | SCV002554118 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270248 | SCV002554119 | benign | Fibromuscular dysplasia, multifocal | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932556 | SCV004763038 | likely benign | COL5A1-related disorder | 2021-01-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |