ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.470T>C (p.Met157Thr) (rs727504789)

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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 RCV000156107 SCV000205820 uncertain significance not specified 2013-09-28 criteria provided, single submitter clinical testing The Met157Thr variant in GJB2 has not been reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide str ong support for or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
Genetic Services Laboratory, University of Chicago RCV000156107 SCV000247475 uncertain significance not specified 2015-01-15 criteria provided, single submitter clinical testing

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