ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) (rs150264392)

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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 RCV000041688 SCV000065384 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu3731Gln in Exon 57 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (26/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs150264392).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513396 SCV000608516 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000513396 SCV001038517 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000513396 SCV001834308 benign not provided 2019-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21701875)
Natera, Inc. RCV001271138 SCV001451991 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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