Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593875 | SCV000701688 | uncertain significance | not provided | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088697 | SCV001027292 | likely benign | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530654 | SCV004744184 | likely benign | LRP4-related disorder | 2019-10-16 | 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). |