ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15581G>A (p.Arg5194His) (rs727505155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156623 SCV000206344 likely benign not specified 2014-06-30 criteria provided, single submitter clinical testing Arg5194His in exon 72 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, most mammals, including some primates, have a histidine (His) at this posit ion.
Counsyl RCV000668542 SCV000793163 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-31 criteria provided, single submitter clinical testing

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