Submissions for variant NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)

gnomAD frequency: 0.00004  dbSNP: rs367982631

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001481593	SCV000722768	likely benign	not provided	2019-08-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001112704	SCV001270395	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	RCV001112705	SCV001270396	uncertain significance	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 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001481593	SCV001685940	likely benign	not provided	2022-06-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729657	SCV001978788	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001481593	SCV001980610	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544754	SCV004782640	likely benign	COL2A1-related disorder	2019-09-23	no assertion criteria provided	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).