ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs397516869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000942303 SCV002049496 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037818 SCV002103717 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing

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