Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995941 | SCV001150347 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | SLC7A3: BS1 |
Prevention |
RCV003906133 | SCV004724908 | likely benign | SLC7A3-related condition | 2021-12-02 | 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). |