Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597585 | SCV000706147 | uncertain significance | not provided | 2017-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084491 | SCV001091318 | likely benign | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597585 | SCV001991353 | uncertain significance | not provided | 2019-06-07 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003952980 | SCV004770264 | likely benign | EVC-related condition | 2022-09-06 | 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). |