Submissions for variant NM_001853.4(COL9A3):c.1549-4C>A

gnomAD frequency: 0.00247  dbSNP: rs190389066

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251664	SCV000308412	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907627	SCV001052343	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000907627	SCV001915245	benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278162	SCV002566431	benign	Connective tissue disorder	2020-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000907627	SCV004150863	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL9A3: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000907627	SCV004562223	likely benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000907627	SCV005311180	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000907627	SCV001800494	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000907627	SCV001964174	likely benign	not provided		no assertion criteria provided	clinical testing