Submissions for variant NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)

gnomAD frequency: 0.00389  dbSNP: rs147947060

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245477	SCV000308425	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000245477	SCV000336504	benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing
Invitae	RCV000890551	SCV001034302	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000890551	SCV001935107	benign	not provided	2018-11-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278165	SCV002566443	benign	Connective tissue disorder	2021-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000890551	SCV004150853	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL9A3: BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000890551	SCV001799033	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000890551	SCV001809203	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000890551	SCV001967415	likely benign	not provided		no assertion criteria provided	clinical testing