ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)

gnomAD frequency: 0.00010  dbSNP: rs557097410
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333245 SCV000344522 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317822 SCV000850758 likely benign Inborn genetic diseases 2016-09-01 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.
Invitae RCV001085996 SCV001022512 likely benign Smith-Lemli-Opitz syndrome 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000333245 SCV001764241 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085996 SCV001460486 likely benign Smith-Lemli-Opitz syndrome 2020-09-16 no assertion criteria provided 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.