ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.510C>T (p.Asn170=) (rs763068053)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781417 SCV000919433 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000781417 SCV000967229 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asn170Asn in exon 2 of GJB2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/8638 East Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs763068053).

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