ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.*23A>C

gnomAD frequency: 0.36428  dbSNP: rs1042667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710374 SCV001938334 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810270 SCV002057546 benign Camptomelic dysplasia 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001710374 SCV005249414 benign not provided criteria provided, single submitter not provided

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