Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174774 | SCV000226140 | benign | not specified | 2016-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000650287 | SCV000772127 | benign | Nephronophthisis 15 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927599 | SCV004737442 | benign | CEP164-related condition | 2019-03-26 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |