ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6317= (p.Thr2106=) (rs6657250)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154111 SCV000203774 benign not specified 2013-03-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154111 SCV000204346 benign not specified 2012-02-02 criteria provided, single submitter clinical testing Inferred frequency = 157/386 (LMM data)
Mendelics RCV000986531 SCV001135548 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000154111 SCV001156868 benign not specified 2018-07-05 criteria provided, single submitter clinical testing

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