Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180161 | SCV000232551 | likely benign | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003329254 | SCV004036894 | uncertain significance | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; 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 |
Invitae | RCV003329254 | SCV004327806 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537504 | SCV004752849 | likely benign | ABCB4-related disorder | 2021-04-07 | 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). |