ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.504A>G (p.Thr168=) (rs4253963)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756875 SCV000884839 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000041854 SCV000169750 benign not specified 2013-01-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000260536 SCV000354180 benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332187 SCV000354181 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041854 SCV000065550 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000041854 SCV000317207 benign not specified criteria provided, single submitter clinical testing

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