ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2546G>A (p.Cys849Tyr) (rs111033481)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041814 SCV000065510 benign not specified 2011-07-07 criteria provided, single submitter clinical testing Cys849Tyr in exon 13 of USH2A: This variant is not expected to have clinical sig nificance because it has been identified in over 1% of controls (rs111033481).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041814 SCV000343168 benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000946559 SCV001092703 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Mendelics RCV000986544 SCV001135562 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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