Submissions for variant NM_001854.4(COL11A1):c.3817-25dup

dbSNP: rs34228277

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000610959	SCV000728701	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.
Invitae	RCV001521965	SCV001731406	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001584428	SCV001821600	benign	Hearing loss, autosomal dominant 37	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001584427	SCV001821601	benign	Fibrochondrogenesis 1	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001584426	SCV001821602	benign	Marshall syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001584425	SCV001821603	benign	Stickler syndrome type 2	2021-07-22	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV001584425	SCV004812794	benign	Stickler syndrome type 2	2023-05-04	criteria provided, single submitter	clinical testing	East Asian population allele frequency is 51.89% (rs34228277, 7250/12548 alleles, 1028 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1