ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.21G>A (p.Gln7=) (rs137932057)

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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 RCV000155092 SCV000204776 likely benign not specified 2013-03-13 criteria provided, single submitter clinical testing Gln7Gln in Exon 02 of GJB2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue, is not located within th e splice consensus sequence, and has been identified in 0.02% (1/4406) African American chromosomes from a broad population by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS; dbSNP rs137932057).

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