ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) (rs117461552)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041892 SCV000065588 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val2228Glu in Exon 35 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 4.2% (5/120) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs11 7461552).
Invitae RCV000923089 SCV001068550 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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