Submissions for variant NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)

dbSNP: rs142792529

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244744	SCV000308416	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000971832	SCV001119502	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000971832	SCV001143299	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000971832	SCV001842843	benign	not provided	2020-09-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278163	SCV002566433	benign	Connective tissue disorder	2021-05-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000971832	SCV004150867	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	COL9A3: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000971832	SCV004563101	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000971832	SCV001800592	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244744	SCV001809596	benign	not specified		no assertion criteria provided	clinical testing