ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.339C>T (p.Ile113=)

gnomAD frequency: 0.00001  dbSNP: rs1047677628
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
Ambry Genetics RCV001020195 SCV001181643 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001484292 SCV001688708 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-12-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001020195 SCV002527109 likely benign Hereditary cancer-predisposing syndrome 2021-02-04 criteria provided, single submitter curation
GeneDx RCV004720038 SCV005326195 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.