ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) (rs769636686)

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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 RCV000219208 SCV000272501 uncertain significance not specified 2015-06-08 criteria provided, single submitter clinical testing The p.Pro955Leu variant in TJP2 has not been previously reported in individuals with hearing loss, but has been identified in 2/6058 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computation al prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of th e p.Pro955Leu variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734093 SCV000862205 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing

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