ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15562A>G (p.Ser5188Gly) (rs58257972)

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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 RCV000710325 SCV000840513 benign Usher syndrome 2018-09-17 reviewed by expert panel curation The filtering allele frequency of the p.Ser5188Gly variant in the USH2A gene is 6.8% (2200/30782) of South Asian 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 RCV000041791 SCV000065487 benign not specified 2010-05-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041791 SCV000232412 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Mendelics RCV000986512 SCV001135527 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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