Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000376467 | SCV000339136 | uncertain significance | not provided | 2016-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088893 | SCV001101835 | likely benign | Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 | 2022-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543072 | SCV004780772 | likely benign | LRP4-related disorder | 2024-02-28 | criteria provided, single submitter | 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). |