ClinVar Miner

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

gnomAD frequency: 0.00050  dbSNP: rs145771342
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Eurofins Ntd Llc (ga) RCV000155316 SCV000232401 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886746 SCV001030272 benign not provided 2024-02-01 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)
Fulgent Genetics, Fulgent Genetics RCV002492585 SCV002807544 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453163 SCV004182719 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986513 SCV004182730 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888601 SCV004707181 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV000986513 SCV001453403 benign Usher syndrome type 2A 2019-12-27 no assertion criteria provided clinical testing

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