ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1816-14G>C

gnomAD frequency: 0.15982  dbSNP: rs7579815
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124404 SCV000167837 benign not specified 2013-01-22 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000124404 SCV000268909 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 1816-14G>C in intron 25 of COL3A1: This variant is not expected to have clinical significance because it has been identified in 20.2% (892/4406) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs7579815).
Preventiongenetics, part of Exact Sciences RCV000124404 SCV000302023 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369336 SCV000425518 benign Ehlers-Danlos syndrome, type 4 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.
Color Diagnostics, LLC DBA Color Health RCV000771056 SCV000902565 benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000369336 SCV001821882 benign Ehlers-Danlos syndrome, type 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001588974 SCV001821883 benign Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000369336 SCV002406216 benign Ehlers-Danlos syndrome, type 4 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000124404 SCV001808894 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000124404 SCV001968220 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000369336 SCV003836765 benign Ehlers-Danlos syndrome, type 4 2022-09-23 no assertion criteria provided clinical testing

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