ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15297+3A>G (rs57754754)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Hearing Loss Variant Curation Expert Panel RCV000710336 SCV000840530 benign Usher syndrome 2018-09-14 reviewed by expert panel curation The filtering allele frequency of the c.15297+3A>G variant in the USH2A gene is 0.99% (265/24032) of African chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041782 SCV000065478 benign not specified 2012-05-15 criteria provided, single submitter clinical testing 15297+3A>G in Intron 70 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.0% (37/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs57754754).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041782 SCV000203771 benign not specified 2014-04-25 criteria provided, single submitter clinical testing
Invitae RCV000911991 SCV001057075 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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