ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11549-5del (rs34565443)

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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 RCV000154396 SCV000204063 benign not specified 2014-02-01 criteria provided, single submitter clinical testing 11549-5delT in intron 59 of USH2A: This variant is not expected to have clinica l significance because it has been identified in 2.0% (166/8241) of European Am erican chromosomes by the NHLBI Exome Sequencing Project, it occurs within a pol y-T tract, and is not predicted to impact splicing ( /EVS/; dbSNP rs34565443).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000154396 SCV000231854 benign not specified 2014-08-29 criteria provided, single submitter clinical testing
Invitae RCV001522859 SCV001732481 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001522859 SCV001855961 benign not provided 2019-08-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31054281)
Natera, Inc. RCV001271135 SCV001451987 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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