Submissions for variant NM_004370.6(COL12A1):c.1892-19dup

dbSNP: rs11347601

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522455	SCV001732004	benign	Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001581172	SCV001821747	benign	Ullrich congenital muscular dystrophy 2	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001581173	SCV001821748	benign	Bethlem myopathy 2	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001573260	SCV001910612	benign	not provided	2019-08-08	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573260	SCV001798849	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700775	SCV001918418	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700775	SCV001974008	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003980620	SCV004797382	benign	COL12A1-related disorder	2019-05-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).