Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000963332 | SCV001110482 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505452 | SCV002806366 | likely benign | Pontocerebellar hypoplasia type 3 | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000963332 | SCV004162383 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | PCLO: BP4, BP7, BS2 |
Prevention |
RCV003916120 | SCV004733463 | benign | PCLO-related disorder | 2019-05-08 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |