ClinVar Miner

Submissions for variant NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) (rs121908823)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162495 SCV000212878 likely benign Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Subpopulation frequency in support of benign classification
Invitae RCV000226605 SCV000290376 benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000614122 SCV000730539 likely benign not specified 2017-10-31 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000614122 SCV000860204 likely benign not specified 2018-03-27 criteria provided, single submitter clinical testing
Familial Cancer Clinic,Veneto Institute of Oncology RCV000123408 SCV000166724 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.
CSER _CC_NCGL, University of Washington RCV000123408 SCV000190641 likely benign Pheochromocytoma 2014-06-01 no assertion criteria provided research

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.