ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12295-3T>A (rs111033518)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675157 SCV000800773 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000041717 SCV000297410 uncertain significance not specified 2015-08-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000414389 SCV000231910 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000414389 SCV000490875 pathogenic not provided 2016-08-15 criteria provided, single submitter clinical testing The c.12295-3T>A variant in the USH2A gene has been reported previously in individuals with Usher syndrome type II and non-syndromic autosomal recessive retinitis pigmentosa (arRP) (Le Quesne Stabej et al., 2012; Lee et al., 2015; Lenassi et al., 2015). RNA functional studies of the c.12295-3T>A variant indicate that it is associated with an out-of-frame skipping of exon 63, which leads to the expression of a smaller transcript and results in a premature termination codon (Lenassi et al., 2015). The c.12295-3T>A variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.12295-3T>A as a pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824780 SCV000065413 pathogenic Usher syndrome; Rare genetic deafness 2019-02-07 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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