ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)

gnomAD frequency: 0.00410  dbSNP: rs116173262
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
GeneDx RCV000428555 SCV000516985 benign not specified 2015-06-09 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.
Invitae RCV000861162 SCV001001400 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000861162 SCV002554736 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000861162 SCV002805633 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430984 SCV004156331 benign not provided 2023-04-01 criteria provided, single submitter clinical testing SERAC1: BP4, BS1, BS2

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.