Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000284554 | SCV000337992 | uncertain significance | not provided | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087069 | SCV000652460 | likely benign | Nephronophthisis 15 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967743 | SCV004785427 | likely benign | CEP164-related condition | 2023-08-25 | 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). |