ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15377T>C (p.Ile5126Thr) (rs111033266)

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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 RCV000041785 SCV000065481 benign not specified 2012-02-20 criteria provided, single submitter clinical testing Ile5126Thr in exon 71 of USH2A: This variant is not expected to have clinical si gnificance because this residue is not conserved across species and computationa l analyses do not suggest a high likelihood of clinical significance. In additio n, this variant been identified in 3% (161/5018 chromosomes) of a broad populati on (dbSNP rs111033266).
GeneDx RCV000041785 SCV000169776 benign not specified 2012-03-21 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041785 SCV000232400 benign not specified 2015-05-20 criteria provided, single submitter clinical testing

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