ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.*75del

gnomAD frequency: 0.00006  dbSNP: rs1057515478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287194 SCV000357326 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335663 SCV000357327 uncertain significance Erythrokeratodermia variabilis et progressiva 1 2016-06-14 criteria provided, single submitter clinical testing

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