ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.*1183del

dbSNP: rs796896836
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000378257 SCV000406254 uncertain significance Camptomelic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694364 SCV005193055 uncertain significance not provided criteria provided, single submitter not provided

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