Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177906 | SCV000229865 | likely benign | not specified | 2015-03-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000643986 | SCV000765673 | likely benign | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2025-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001539409 | SCV001757184 | likely benign | not provided | 2020-08-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV004537452 | SCV004739714 | benign | LRP4-related disorder | 2022-11-16 | 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). |