ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) (rs149553844)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191140 SCV000245549 uncertain significance Retinitis pigmentosa 39 2013-04-10 criteria provided, single submitter clinical testing This variant was found once in our laboratory with a pathogenic variant [E767fs] and another missense variant [E3448K; phase undetermined] in a 32-year-old female with retinitis pigmentosa. Variant possibly pathogenic in recessive state; heterozygotes would be carriers.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000359124 SCV000339980 uncertain significance not provided 2016-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765068 SCV000896268 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504652 SCV000598823 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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