ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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: //evs.gs.washington.edu/EVS; 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041881 SCV000605548 benign not specified 2018-10-08 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
Invitae RCV000755431 SCV001097411 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Mendelics RCV000986532 SCV001135549 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
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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