ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8200G>A (p.Val2734Met) (rs397518035)

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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 RCV000041920 SCV000065616 uncertain significance not specified 2011-08-22 criteria provided, single submitter clinical testing The Val2734Met variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is highly conserved across spe cies, however computational analyses (biochemical amino acid properties, PolyPhe n2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In summary, the clinical significance of this variant cannot be determined at t his time.
Counsyl RCV000670608 SCV000795480 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-08 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477867 SCV000536804 uncertain significance Usher syndrome, type 2A 2015-11-24 no assertion criteria provided research

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