Submissions for variant NM_001844.5(COL2A1):c.195C>T (p.Asp65=)

gnomAD frequency: 0.00056  dbSNP: rs202210896

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725382	SCV000336501	uncertain significance	not provided	2017-10-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000725382	SCV000729605	likely benign	not provided	2020-12-24	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659384	SCV000781195	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000725382	SCV001120834	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114415	SCV001272295	uncertain significance	Stickler syndrome type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001114416	SCV001272296	benign	Type II Collagenopathies	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725382	SCV001471977	likely benign	not provided	2020-03-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725382	SCV004130677	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL2A1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004535312	SCV004719861	likely benign	COL2A1-related disorder	2019-06-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).