Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556568 | SCV000652474 | benign | Nephronophthisis 15 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905436 | SCV004721079 | likely benign | CEP164-related condition | 2020-07-29 | 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). |