ClinVar Miner

Submissions for variant NM_000462.5(UBE3A):c.2133+9T>C (rs79328837)

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Total submissions: 9
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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, ClinGen RCV000144346 SCV001711964 benign Angelman syndrome 2021-03-26 reviewed by expert panel curation The allele frequency of the c.2064+9T>C variant in UBE3A is 0.4% in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions. Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.2064+9T>C variant in UBE3A is classified as benign based on the ACMG/AMP criteria (BA1, BP4).
GeneDx RCV000082346 SCV000169715 benign not specified 2016-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000082346 SCV000195359 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082346 SCV000333389 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Invitae RCV000144346 SCV000559149 benign Angelman syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000858258 SCV001146578 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000144346 SCV000188523 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000082346 SCV001931594 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000082346 SCV001953711 benign not specified no assertion criteria provided clinical testing

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