Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001487099 | SCV001691583 | likely benign | Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004540433 | SCV004784638 | likely benign | ANO5-related disorder | 2020-11-11 | 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). |