ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14664G>A (p.Thr4888=) (rs111033525)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041768 SCV000065464 likely benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Thr4888Thr in exon 67 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been identified in 0.1% (73/67624) of European ch romosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org; d bSNP rs111033525).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725431 SCV000336889 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV000725431 SCV001049825 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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