ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11467G>A (p.Val3823Ile) (rs142481947)

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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 RCV000724948 SCV000332667 uncertain significance not provided 2015-07-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000387630 SCV000711233 likely benign not specified 2018-01-09 criteria provided, single submitter clinical testing p.Val3823Ile in exon 59 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (45/10404) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142481947). 0.4% (95/23930) of African chromosomes by the Genome Aggr egation Database (gnomAD, http://gnomad.broadinstitute.org).

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