ClinVar Miner

Submissions for variant NC_000009.12:g.35658025T>C

gnomAD frequency: 0.00057  dbSNP: rs111909453
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418350 SCV000529218 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000641021 SCV000762631 likely benign Anauxetic dysplasia 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828423 SCV002075588 likely benign Metaphyseal chondrodysplasia, McKusick type 2020-10-12 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003959951 SCV004773566 likely benign RMRP-related disorder 2022-11-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.