Submissions for variant NM_001854.4(COL11A1):c.3817-14_3817-13dup

dbSNP: rs34228277

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000325284	SCV000346417	uncertain significance	Marshall syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389263	SCV000346418	uncertain significance	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294996	SCV000346419	uncertain significance	Fibrochondrogenesis 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000600627	SCV000728702	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515354	SCV001723408	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000600627	SCV001808403	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000600627	SCV001919599	benign	not specified		no assertion criteria provided	clinical testing