ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) (rs377218278)

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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 RCV000155441 SCV000205131 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing The Ser953Leu variant in TJP2 has not been previously reported in individuals wi th hearing loss, but has been identified in 1/4404 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS, rs37721 8278). Computational prediction tools and conservation analyses do not provide s trong support for or against an impact to the protein. In summary, additional in formation is needed to fully assess the clinical significance of this variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728975 SCV000856604 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing

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