ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3123C>A (p.His1041Gln) (rs149304901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487811 SCV000574825 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487811 SCV000705832 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041821 SCV000065517 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.His1041Gln in exon 15 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.2% (135/66210) of European chro mosomes and in 0.2% (37/16414) of South Asian chromosomes including 2 homozygote s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs149304901). It has been reported in 1 Northern Irish individual with retin itis pigmentosa and in 0.3% (2/720) control chromosomes (Simpson 2011).

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