ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) (rs147900972)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041695 SCV000065391 benign not specified 2017-08-10 criteria provided, single submitter clinical testing p.Glu3802Lys in exon 59 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.3% (280/21974) of Finnish chrom osomes including 2 homozygotes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs147900972). In addition, computational anal yses do not suggest a high likelihood of clinical significance primarily based u pon a lack of conservation across species including mammals. Of note, orangutan, rat, mouse, dog and cow have a lysine at this position despite high nearby amin o acid conservation.
GeneDx RCV000828963 SCV000970670 benign not provided 2019-09-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32707200)
Invitae RCV000828963 SCV001035637 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000041695 SCV001923432 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041695 SCV001955485 benign not specified no assertion criteria provided clinical testing

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