ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.799-6C>T

gnomAD frequency: 0.00003  dbSNP: rs1286921439
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003778493 SCV004628813 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology RCV003447659 SCV004174822 uncertain significance Knobloch syndrome 1 2023-11-14 no assertion criteria provided research Based on ACMG criteria, the variant 799-6C>T is predicted as a Variant of Uncertain Significance (VUS). Segregation analysis corroborated a causal link between the VUS within the COL18A1 gene and disease features within a Pakistani family. This variant consistently manifested as a recessive allele in affected family members and was never observed in a homozygous state within the control population database. The rarity of this variant in its monoallelic status in GnomAD and 1000 Genomes (MAF =0.00003) emphasizes its pathogenic potential role of an autosomal recessive disorder.

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.