ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1227C>T (p.Ser409=)

gnomAD frequency: 0.00041  dbSNP: rs41301424
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757682 SCV000886001 benign not provided 2017-10-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164199 SCV001326308 likely benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000757682 SCV001758078 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Invitae RCV001164199 SCV002408224 benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2024-01-31 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.