Submissions for variant NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)

gnomAD frequency: 0.00140  dbSNP: rs202106628

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000384279	SCV000335658	uncertain significance	not provided	2015-10-01	criteria provided, single submitter	clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000384279	SCV001448963	uncertain significance	not provided	2019-10-09	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000384279	SCV002051609	uncertain significance	not provided	2021-03-03	criteria provided, single submitter	clinical testing	No ACMG evidence could be applied applied
Invitae	RCV000384279	SCV002329915	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547681	SCV004779025	likely benign	COL18A1-related disorder	2023-01-30	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000384279	SCV001799434	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000384279	SCV001975877	uncertain significance	not provided		no assertion criteria provided	clinical testing