ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.711A>C (p.Pro237=)

gnomAD frequency: 0.00012  dbSNP: rs1305561578
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860552 SCV001000636 likely benign Camptomelic dysplasia 2024-10-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705789 SCV005211827 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701323 SCV001926948 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701323 SCV001974481 benign not specified no assertion criteria provided clinical testing

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