Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000609148 | SCV000728589 | benign | not specified | 2015-03-17 | 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 | RCV000869968 | SCV001011433 | likely benign | EAST syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506476 | SCV002798640 | likely benign | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004544783 | SCV004793212 | likely benign | KCNJ10-related disorder | 2019-04-16 | 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). |