Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734165 | SCV000862287 | likely benign | not specified | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000894113 | SCV001038080 | benign | not provided | 2024-10-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908054 | SCV004725698 | likely benign | ABCA3-related disorder | 2019-04-23 | 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). |