ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu)

gnomAD frequency: 0.00170  dbSNP: rs8176344
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
Illumina Laboratory Services, Illumina RCV001111795 SCV001269394 benign Vitamin D-dependent rickets, type 1 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512295 SCV001719687 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001512295 SCV001890529 benign not provided 2019-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23423976)

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.