ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.*532del

dbSNP: rs935438706
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382209 SCV000357348 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000287746 SCV000357349 uncertain significance Erythrokeratodermia variabilis et progressiva 1 2016-06-14 criteria provided, single submitter clinical testing

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