Submissions for variant NM_001854.4(COL11A1):c.1792-39ATG[9]

dbSNP: rs71752747

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079905	SCV000111788	benign	not specified	2014-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079905	SCV000308445	likely benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079905	SCV000538711	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510954	SCV001718119	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582568	SCV001821635	benign	Hearing loss, autosomal dominant 37	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582567	SCV001821636	benign	Fibrochondrogenesis 1	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582566	SCV001821637	benign	Marshall syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001582565	SCV001821638	benign	Stickler syndrome type 2	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001510954	SCV001907687	benign	not provided	2016-09-30	criteria provided, single submitter	clinical testing