ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.61-7319G>C (rs371868876)

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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 RCV000214742 SCV000272500 uncertain significance not specified 2015-01-22 criteria provided, single submitter clinical testing The p.Gly23Ala variant in TJP2 has not been previously reported in individuals w ith hearing loss, but has been identified in 1/7628 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3718 68876). Computational prediction tools and conservation analyses suggest that th is variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gly23Ala variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727141 SCV000706103 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing

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