ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) (rs138879998)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000216357 SCV000231902 likely benign not specified 2016-06-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216357 SCV000269946 benign not specified 2015-11-12 criteria provided, single submitter clinical testing p.Arg4493His in exon 63 of USH2A: tjhis variant is not expected to have clinical significance because it has been identified in 0.71% (61/8646) of East Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs138879998). It has been reported as a "less likely pathogenic vari ant" in an individual with retinitis pigmentosa (Xu 2014).
Invitae RCV000879539 SCV001022575 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000879539 SCV001147663 likely benign not provided 2019-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073767 SCV001239327 uncertain significance Retinal dystrophy 2017-12-06 criteria provided, single submitter clinical testing

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