ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) (rs143240767)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041924 SCV000065620 likely benign not specified 2014-10-17 criteria provided, single submitter clinical testing Thr2781Ile in exon 42 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 2.8% (5/178) of Japanese chromosome s by the 1000 Genomes project (rs143240767). While it has been identified in on e individual with hearing loss (Yang 2013), based on the population frequency, t his variant is likely benign.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490269 SCV000267555 uncertain significance Usher syndrome, type 2A 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000665134 SCV000789200 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000937215 SCV001082991 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000490269 SCV001135543 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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