Submissions for variant NM_001854.4(COL11A1):c.274+42G>C

gnomAD frequency: 0.48053  dbSNP: rs11164662

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248295	SCV000308460	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000834074	SCV000975842	benign	not provided	2018-06-14	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.
Genome-Nilou Lab	RCV001582837	SCV001821649	benign	Hearing loss, autosomal dominant 37	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582836	SCV001821650	benign	Fibrochondrogenesis 1	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582835	SCV001821651	benign	Marshall syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582834	SCV001821652	benign	Stickler syndrome type 2	2021-07-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000834074	SCV005286751	benign	not provided		criteria provided, single submitter	not provided