ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2777G>A (p.Arg926His) (rs146916397)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041817 SCV000065513 uncertain significance not specified 2011-09-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg926His varia nt in USH2A has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, homo logy, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against p athogenicity. In summary, the clinical significance of this variant cannot be de termined with certainty at this time.
GeneDx RCV000041817 SCV000523476 likely benign not specified 2016-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000665768 SCV000789939 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074040 SCV001239608 uncertain significance Retinal dystrophy 2018-11-12 criteria provided, single submitter clinical testing

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