ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)

gnomAD frequency: 0.27559  dbSNP: rs4792311
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419055 SCV000517568 benign not specified 2016-01-18 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.
Mendelics RCV000989756 SCV001140304 benign Combined oxidative phosphorylation defect type 17 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989756 SCV001730605 benign Combined oxidative phosphorylation defect type 17 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989756 SCV001876002 benign Combined oxidative phosphorylation defect type 17 2021-07-30 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV000989756 SCV002503691 benign Combined oxidative phosphorylation defect type 17 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency is 27% (rs4792311; 75,983/277,124 alleles in gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
Fulgent Genetics, Fulgent Genetics RCV002476932 SCV002796756 benign Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 2021-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676444 SCV005247920 benign not provided criteria provided, single submitter not provided
OMIM RCV000005358 SCV000025536 pathogenic Prostate cancer, hereditary, 2 2002-01-01 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000676444 SCV000802225 benign not provided 2016-02-15 no assertion criteria provided 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.