ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6711C>A (p.Asp2237Glu) (rs138959688)

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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 RCV000041893 SCV000065589 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing p.Asp2237Glu in exon 35 of USH2A: This variant is not expected to have clinical significance because the aspartic acid (Asp) residue at position 2237 is not con served through species, with >10 mammals having a glutamic acid (Glu) at this po sition. It has been identified in 0.2% (16/10406) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1389 59688).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729028 SCV000856662 uncertain significance not provided 2017-09-20 criteria provided, single submitter clinical testing

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