Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079325 | SCV000111195 | benign | not specified | 2013-10-02 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625248 | SCV000744311 | likely benign | Congenital stationary night blindness 1B | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000086037 | SCV001115914 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000086037 | SCV005222604 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Retina International | RCV000086037 | SCV000118180 | not provided | not provided | no assertion provided | not provided | ||
Clinical Genetics, |
RCV000079325 | SCV001917094 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003915057 | SCV004728955 | benign | GRM6-related disorder | 2019-07-08 | no assertion criteria provided | 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). |