Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000944783 | SCV001090763 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000944783 | SCV004700768 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | CDH23: BP4, BP7 |
Prevention |
RCV003960561 | SCV004771001 | likely benign | CDH23-related condition | 2023-12-06 | 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, |
RCV001275417 | SCV001460567 | likely benign | Usher syndrome type 1 | 2020-04-11 | no assertion criteria provided | clinical testing |