ClinVar Miner

Submissions for variant NM_206933.4(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: //; 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 2019-12-31 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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