ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.1177C>T (p.Gln393Ter)

dbSNP: rs1598176852
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
Krakow/Cohn Lab, University of California, Los Angeles RCV000853398 SCV000995991 pathogenic Camptomelic dysplasia 2019-07-01 no assertion criteria provided clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000853398 SCV001438993 likely pathogenic Camptomelic dysplasia no assertion criteria provided research

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