Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000926599 | SCV001072162 | likely benign | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002479075 | SCV002802548 | likely benign | Cerebral palsy, spastic quadriplegic, 2 | 2022-04-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543480 | SCV004760980 | likely benign | KANK1-related disorder | 2023-01-27 | 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). |