ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12598T>G (p.Trp4200Gly) (rs114116572)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724907 SCV000332325 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155321 SCV000205007 likely benign not specified 2014-06-03 criteria provided, single submitter clinical testing Trp4200Gly in exon 63 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, at least 5 mammals (dolphin, killer whale, hedgehog, star-nosed mole, and c ape-golden mole) have a glycine (Gly) at this position despite high nearby amino acid conservation. In addition, it was identified in 0.6% (1/176) of African ch romosomes by the 1000 Genomes Project (http://www.1000genomes.org; dbSNP rs11411 6572).

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