Submissions for variant NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=)

gnomAD frequency: 0.43308  dbSNP: rs1050351

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252618	SCV000314655	benign	not specified		criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000607757	SCV000745080	benign	Knobloch syndrome	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510213	SCV001717198	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000607757	SCV001821810	benign	Knobloch syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001589285	SCV001821811	benign	Hereditary glaucoma, primary closed-angle	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001510213	SCV001946072	benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001510213	SCV005279078	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607757	SCV000734094	benign	Knobloch syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000607757	SCV000745794	benign	Knobloch syndrome	2017-01-23	no assertion criteria provided	clinical testing