ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4758+3A>G (rs117798425)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000599908 SCV000711239 benign not specified 2017-11-22 criteria provided, single submitter clinical testing c.4758+3A>G in intron 22 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.9% (348/18756) of East Asian c hromosomes, including 4 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs117798425). ACMG/AMP Criteria applie d: BA1.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000599908 SCV000856091 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing
Invitae RCV000907794 SCV001052521 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000986536 SCV001135554 likely benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000907794 SCV001941370 benign not provided 2018-12-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25445212, 25404053, 30245029, 29625443, 31180159, 31904091, 32090030, 32893482, 33090715)
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144478 SCV000189613 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing
Natera, Inc. RCV000986536 SCV001455638 benign Usher syndrome, type 2A 2020-06-24 no assertion criteria provided clinical testing

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