ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=)

gnomAD frequency: 0.00042  dbSNP: rs145608939
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178513 SCV000230605 benign not specified 2018-05-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000178513 SCV000612903 benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539797 SCV000627226 benign Osteogenesis imperfecta type I 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001721123 SCV000726229 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277403 SCV002565510 benign Ehlers-Danlos syndrome 2022-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321706 SCV002607423 likely benign Cardiovascular phenotype 2020-06-11 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.
CeGaT Center for Human Genetics Tuebingen RCV001721123 SCV005040994 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing COL1A1: BP4, BP7, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000178513 SCV005381108 benign not specified 2024-08-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721123 SCV005879088 benign not provided 2024-04-29 criteria provided, single submitter clinical testing

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.