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

gnomAD frequency: 0.00205  dbSNP: rs117696751

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175590	SCV000227103	likely benign	not specified	2014-12-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573326	SCV000605236	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000300814	SCV001000699	benign	Camptomelic dysplasia	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001573326	SCV001900848	benign	not provided	2018-10-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277359	SCV002567037	likely benign	Connective tissue disorder	2019-12-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000300814	SCV002802287	likely benign	Camptomelic dysplasia	2021-08-30	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573326	SCV001799030	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000175590	SCV001975494	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573326	SCV001978405	likely benign	not provided		no assertion criteria provided	clinical testing