ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-30C>T (rs397516867)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037807 SCV000061469 uncertain significance not specified 2011-02-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The -3209C>T varian t in GJB2 has not been reported in the literature nor previously identified by o ur laboratory. This variant is located in the 5'UTR. Although we cannot rule out a deleterious impact on the regulation of splicing or translation of GJB2, to d ate no disease-causing variants have been found in this region of the transcript . In summary, the clinical significance of this variant cannot be determined wit h certainty at this time; however based upon the available data, we would lean t owards a more likely benign role.

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