ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.4230+5C>T (rs142248898)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124451 SCV000167884 benign not specified 2013-02-22 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.
Invitae RCV000999971 SCV000283493 benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000124451 SCV000302213 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124451 SCV000340993 likely benign not specified 2016-05-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376400 SCV000478571 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999971 SCV000603179 benign Ehlers-Danlos syndrome, classic type 2018-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617481 SCV000738581 likely benign Cardiovascular phenotype 2018-12-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659459 SCV000781274 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999971 SCV001329968 benign Ehlers-Danlos syndrome, classic type 2018-01-13 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198807 SCV001369802 likely benign Pes planus; Abnormality of the sternum; Bruising susceptibility; Hyperextensibility of the finger joints; Joint dislocation; Joint laxity 2018-10-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in homozygous state.
Blueprint Genetics RCV000157145 SCV000206868 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-04-11 no assertion criteria provided clinical testing

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