Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002093728 | SCV002390765 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002093728 | SCV004132173 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | MS4A1: BP4, BP7 |
Breakthrough Genomics, |
RCV002093728 | SCV005324374 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003913643 | SCV004736108 | likely benign | MS4A1-related disorder | 2024-01-24 | 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). |