Submissions for variant NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)

gnomAD frequency: 0.00513  dbSNP: rs35795890

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124401	SCV000167834	benign	not specified	2013-05-31	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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203161	SCV000257625	benign	Ehlers-Danlos syndrome, type 4	2015-07-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203161	SCV000283455	benign	Ehlers-Danlos syndrome, type 4	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000124401	SCV000302021	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769567	SCV000317339	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-06-26	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000203161	SCV000425517	benign	Ehlers-Danlos syndrome, type 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000590111	SCV000603139	benign	not provided	2024-10-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590111	SCV000695359	benign	not provided	2016-02-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769567	SCV000900964	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-05-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769567	SCV000902690	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-12	criteria provided, single submitter	clinical testing
Mendelics	RCV000203161	SCV001136116	likely benign	Ehlers-Danlos syndrome, type 4	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000590111	SCV001250008	likely benign	not provided	2025-04-01	criteria provided, single submitter	clinical testing	COL3A1: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277191	SCV002565609	benign	Ehlers-Danlos syndrome	2022-03-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000590111	SCV005262394	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000590111	SCV001928038	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000590111	SCV001960055	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000124401	SCV001964989	benign	not specified		no assertion criteria provided	clinical testing