ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-174C>G (rs541058463)

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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 RCV000610033 SCV000731728 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing c.-174C>G in exon 1 of GJB2: This variant is not expected to have clinical signi ficance because it has been identified in 0.3% (26/8672) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; d bSNP rs541058463).

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