ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) (rs199790409)

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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 RCV000037864 SCV000061526 uncertain significance not specified 2012-02-10 criteria provided, single submitter clinical testing The Thr189Asn variant in GJB2 has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (conservation, PolyPhe n2, SIFT, AlignGVGD) suggest that the Thr189Asn variant may impact the protein. However, this information is not predictive enough to determine pathogenicity.

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