Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003159658 | SCV000726840 | uncertain significance | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29068549) |
Counsyl | RCV000673759 | SCV000798997 | uncertain significance | Ellis-van Creveld syndrome | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000878646 | SCV001021582 | likely benign | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905290 | SCV004722965 | likely benign | EVC-related disorder | 2022-10-28 | 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). |
Dan Cohn Lab, |
RCV000673759 | SCV000612077 | pathogenic | Ellis-van Creveld syndrome | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000673759 | SCV001479592 | likely pathogenic | Ellis-van Creveld syndrome | no assertion criteria provided | research | ||
Natera, |
RCV000673759 | SCV002083031 | likely benign | Ellis-van Creveld syndrome | 2020-02-17 | no assertion criteria provided | clinical testing |