ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3584G>T (p.Cys1195Phe) (rs727504652)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155915 SCV000205626 uncertain significance not specified 2013-09-27 criteria provided, single submitter clinical testing The Cys1195Phe variant in USH2A has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. In summary, a dditional data is needed to determine the clinical significance of this variant.
Counsyl RCV000668970 SCV000793656 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-08-22 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225490 SCV000282650 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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