Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001514484 | SCV001722347 | benign | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2025-01-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001514484 | SCV002799448 | likely benign | Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 | 2022-05-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736941 | SCV004562078 | likely benign | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553383 | SCV004768795 | likely benign | SEC23B-related disorder | 2020-01-24 | no assertion criteria provided | 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). |