Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642223 | SCV000763877 | likely benign | Vici syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001570192 | SCV001794432 | likely benign | not provided | 2020-02-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as likely benign but additional evidence is not available (SCV000763877.1; Landrum et al., 2016); Observed in 0.0324% (91/280904 alleles) in large population cohorts (Lek et al., 2016) |
Prevention |
RCV003937939 | SCV004757954 | likely benign | EPG5-related condition | 2023-03-21 | 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). |