Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506022 | SCV000603140 | likely benign | not specified | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003522984 | SCV004343491 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541581 | SCV004780967 | likely benign | COL3A1-related disorder | 2023-10-29 | 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). |