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, 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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