Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003235377 | SCV003934934 | uncertain significance | Angelman syndrome | 2023-06-15 | reviewed by expert panel | curation | The c.*4A>G variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.0068% in the European (non-Finnish) sub population (no criteria met). In summary, the c.*4A>G variant in UBE3A is classified as Variant of Uncertain Significance based on the ACMG/AMP criteria (no criteria met). |
Eurofins Ntd Llc |
RCV000733008 | SCV000861017 | uncertain significance | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000733008 | SCV001778559 | likely benign | not provided | 2019-12-23 | criteria provided, single submitter | clinical testing |