ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.-169G>A

gnomAD frequency: 0.01122  dbSNP: rs115615437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001564298 SCV000884562 benign not provided 2021-10-08 criteria provided, single submitter clinical testing
GeneDx RCV001564298 SCV001787445 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001564298 SCV005211826 likely benign not provided criteria provided, single submitter not provided

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