ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) (rs114402911)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755431 SCV000605548 benign not provided 2017-08-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041881 SCV000704138 benign not specified 2017-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041881 SCV000065577 benign not specified 2012-05-14 criteria provided, single submitter clinical testing Lys2080Asn in Exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (41/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs114402911). As expected, this variant has b een reported in equal frequencies in cases and controls (Booij 2010, Clark 2010, Dreyer 2008, McGee 2010).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504996 SCV000598819 uncertain significance Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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