Submissions for variant NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)

dbSNP: rs186233557

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254258	SCV000308070	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000254258	SCV000335713	benign	not specified	2015-09-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000894899	SCV000533455	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24664531)
Invitae	RCV000894899	SCV001038914	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000988827	SCV001138712	benign	Stickler syndrome type 1	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000894899	SCV001143206	benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000894899	SCV001159223	likely benign	not provided	2023-10-11	criteria provided, single submitter	clinical testing
Grupo de Genetica Humana, Facultad de Medicina - Universidad de La Sabana	RCV003320624	SCV004025906	uncertain significance	Orofacial cleft 1	2022-11-22	criteria provided, single submitter	research	Likely pathogenic VUS in the COL2A1 gene, which has been implicated in Stickler syndrome, a condition with manifestations in the eye, ear, joints, face, and palate, including cleft palate.