Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624391 | SCV000742347 | uncertain significance | Inborn genetic diseases | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Genetics Laboratory, |
RCV001420238 | SCV001622658 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PS2_strong;PM2_supporting;PM6_moderate;PM5_moderate;PP2_supporting |
Ce |
RCV003311864 | SCV004009938 | likely pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FBXO28: PS2, PM2, PM5:Supporting, PS4:Supporting |
OMIM | RCV001844206 | SCV002103312 | pathogenic | Developmental and epileptic encephalopathy 100 | 2022-03-09 | no assertion criteria provided | literature only |