Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430409 | SCV000514728 | likely benign | not specified | 2015-06-25 | 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 | RCV000895009 | SCV001039026 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000001140 | SCV001137621 | likely benign | Vesicoureteral reflux 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000895009 | SCV001155425 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | SOX17: BS2 |
Prevention |
RCV003924848 | SCV004740312 | benign | SOX17-related condition | 2019-06-28 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000001140 | SCV000021290 | uncertain significance | Vesicoureteral reflux 3 | 2010-12-01 | no assertion criteria provided | literature only |