ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000599908 SCV000856091 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing
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.
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144478 SCV000189613 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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