Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002263346 | SCV002544878 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | WDFY3: BS1, BS2 |
Fulgent Genetics, |
RCV002496198 | SCV002795209 | likely benign | Microcephaly 18, primary, autosomal dominant | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004534015 | SCV004731851 | benign | WDFY3-related disorder | 2021-03-03 | 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). |