Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000925557 | SCV001071099 | likely benign | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000925557 | SCV001796546 | likely benign | not provided | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003903054 | SCV004723996 | likely benign | CDH23-related condition | 2019-10-18 | 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). |
Natera, |
RCV001272544 | SCV001454636 | uncertain significance | Usher syndrome type 1 | 2020-01-24 | no assertion criteria provided | clinical testing |