Submissions for variant NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)

gnomAD frequency: 0.00245  dbSNP: rs148430780

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000177967	SCV000167938	benign	not specified	2013-12-30	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.
Eurofins Ntd Llc (ga)	RCV000177967	SCV000229934	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177967	SCV000303988	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311013	SCV000320159	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000309555	SCV000425637	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000757125	SCV000558993	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-30	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659481	SCV000781296	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999837	SCV000885247	benign	Ehlers-Danlos syndrome, classic type, 2	2021-02-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999837	SCV001304279	benign	Ehlers-Danlos syndrome, classic type, 2	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705908	SCV002544191	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	COL5A2: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277234	SCV002565820	benign	Ehlers-Danlos syndrome	2020-12-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177967	SCV004028665	benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000177967	SCV001808975	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705908	SCV001926426	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705908	SCV001967408	likely benign	not provided		no assertion criteria provided	clinical testing