Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000585411 | SCV000226559 | uncertain significance | not provided | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585411 | SCV000692893 | uncertain significance | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083338 | SCV001100631 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003982924 | SCV004799872 | likely benign | GUCY2D-related disorder | 2019-05-06 | no assertion criteria provided | 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). |