Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078743 | SCV000110603 | uncertain significance | not provided | 2013-10-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003750778 | SCV004448262 | benign | Spastic paraplegia | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915050 | SCV004731189 | likely benign | L1CAM-related disorder | 2020-01-13 | 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). |