ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14191G>A (p.Gly4731Arg) (rs148674752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221554 SCV000272891 uncertain significance not specified 2015-04-29 criteria provided, single submitter clinical testing The p.Gly4731Arg variant in USH2A has not been previously reported in individual s with hearing loss but has been identified in 5/66652 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 48674752). Computational prediction tools and conservation analyses do not provi de strong support for or against an impact to the protein. In summary, the clin ical significance of the p.Gly4731Arg variant is uncertain.
Fulgent Genetics,Fulgent Genetics RCV000763827 SCV000894745 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing

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