ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.1984-5C>A (rs66592376)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177437 SCV000229293 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000177437 SCV000512685 benign not specified 2017-12-20 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514224 SCV000609655 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000177437 SCV000612896 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000989945 SCV000627192 benign Osteogenesis imperfecta type I 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659353 SCV000781164 uncertain significance Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000989945 SCV001140688 likely benign Osteogenesis imperfecta type I 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000177437 SCV001157099 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001125582 SCV001284667 likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001127681 SCV001287018 uncertain significance Infantile cortical hyperostosis 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 Clinical Services Laboratory,Illumina RCV001127682 SCV001287019 uncertain significance Osteogenesis imperfecta 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.