Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195440 | SCV001365809 | likely benign | not specified | 2020-04-02 | criteria provided, single submitter | clinical testing | The p.Thr128Thr variant in ALMS1 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7. |
Prevention |
RCV003908440 | SCV004726791 | likely benign | ALMS1-related condition | 2024-02-09 | 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). |