ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.685+8G>A (rs117696751)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175590 SCV000227103 likely benign not specified 2014-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282446 SCV000605236 benign none provided 2020-07-02 criteria provided, single submitter clinical testing
Invitae RCV000300814 SCV001000699 benign Camptomelic dysplasia 2019-12-31 criteria provided, single submitter clinical testing

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