ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.*4A>G

gnomAD frequency: 0.00003  dbSNP: rs755581358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 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 (ga) RCV000733008 SCV000861017 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000733008 SCV001778559 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing

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