Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173095 | SCV000224179 | uncertain significance | not provided | 2015-02-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054037 | SCV002403087 | benign | Lowe syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947458 | SCV004763871 | benign | OCRL-related condition | 2022-02-17 | 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). |
Genetic Services Laboratory, |
RCV003150965 | SCV003839801 | likely benign | not specified | 2022-04-20 | no assertion criteria provided | clinical testing |