ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) (rs148246073)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575599 SCV000664553 likely benign Hereditary cancer-predisposing syndrome 2018-04-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Co-occurence with mutation in same gene (phase unknown)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514856 SCV000610736 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000607544 SCV000730701 benign not specified 2017-12-11 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.
Illumina Clinical Services Laboratory,Illumina RCV000304507 SCV000456995 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343277 SCV000456996 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390055 SCV000456997 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204241 SCV000262189 benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-11 criteria provided, single submitter 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.