ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.908A>C (p.Lys303Thr)

dbSNP: rs1682488839
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253290 SCV001428936 uncertain significance Glaucoma 3A 2017-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568730 SCV003554450 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.908A>C (p.K303T) alteration is located in exon 2 (coding exon 1) of the CYP1B1 gene. This alteration results from a A to C substitution at nucleotide position 908, causing the lysine (K) at amino acid position 303 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692352 SCV005187619 uncertain significance not provided criteria provided, single submitter not provided

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.