ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11649A>G (p.Ile3883Met) (rs397517975)

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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 RCV000041700 SCV000065396 uncertain significance not specified 2011-03-08 criteria provided, single submitter clinical testing The Ile3883Met variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, homology, PolyPhen, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time.
Counsyl RCV000668179 SCV000792739 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-11 criteria provided, single submitter clinical testing

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