ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.186C>T (p.Asn62=) (rs397516869)

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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 RCV000037818 SCV000061480 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Asn62Asn in exon 2 of GJB2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the splice consensus sequence. It has been identified in 4/66700 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs397516869).
Invitae RCV000942303 SCV001088225 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing

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