ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) (rs145771342)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155316 SCV000205002 benign not specified 2016-05-21 criteria provided, single submitter clinical testing Arg5143Cys in exon 71 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (89/8652) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs145771342).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155316 SCV000232401 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Invitae RCV000886746 SCV001030272 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Mendelics RCV000986513 SCV001135528 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000886746 SCV001886474 benign not provided 2018-11-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33090715, 32893482, 31180159, 29625443, 30245029, 28224992, 28488341, 23737954, 24938718, 25356976)
Natera, Inc. RCV000986513 SCV001453403 benign Usher syndrome, type 2A 2019-12-27 no assertion criteria provided clinical testing

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