ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2052A>G (p.Gln684=) (rs111033248)

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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 RCV000041805 SCV000065501 benign not specified 2016-06-08 criteria provided, single submitter clinical testing Gln684Gln in exon 12 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.7% (109/16500) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs111033248).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041805 SCV000702334 likely benign not specified 2016-10-27 criteria provided, single submitter clinical testing

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