ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12343C>T (p.Arg4115Cys) (rs111033275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727295 SCV000707355 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041719 SCV000065415 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Arg4115Cys in exon 63 of USH2A: This variant has been reported in 8 individual s with Usher syndrome and 2 individuals with retinitis pigmentosa. However, 3 of the individuals with Usher syndrome carried another pathogenic variant on the s ame allele and 4 of the 10 individuals carried 2 pathogenic variants in USH2A th at were sufficient to explain their disease. As a result, this variant is not ex pected to have clinical significance. It has also been identified in 32/66436 Eu ropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs111033275).

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