ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3045C>G (p.His1015Gln) (rs541918040)

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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 RCV000156761 SCV000206482 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing The His1015Gln variant in USH2A has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, the clinical significance of the His 1015Gln variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000378937 SCV000354142 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286781 SCV000354143 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000667957 SCV000792489 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-26 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678650 SCV000804741 uncertain significance Retinitis pigmentosa 39 2016-09-01 no assertion criteria provided clinical testing

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