ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val)

gnomAD frequency: 0.70413  dbSNP: rs523349
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
PreventionGenetics, part of Exact Sciences RCV000250955 SCV000303743 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516898 SCV001725268 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000083650 SCV001886348 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516898 SCV002057166 benign 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000083650 SCV005241774 benign not provided criteria provided, single submitter not provided
University of Sydney Medical Foundation RCV000083650 SCV000115736 not provided not provided no assertion provided not provided

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.