ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7068T>G (p.Asn2356Lys) (rs200038092)

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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 RCV000041902 SCV000065598 benign not specified 2017-09-04 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490376 SCV000267556 uncertain significance Usher syndrome, type 2A 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000671627 SCV000796617 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-12-20 criteria provided, single submitter clinical testing
Invitae RCV000924303 SCV001069814 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Mendelics RCV000490376 SCV001135546 uncertain significance Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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