Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000266880 | SCV000345832 | uncertain significance | not provided | 2016-09-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001438617 | SCV001641495 | likely benign | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 2023-03-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004755850 | SCV005367389 | likely benign | DNAJB6-related disorder | 2024-06-12 | 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). |