ClinVar Miner

Submissions for variant NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met)

gnomAD frequency: 0.99996  dbSNP: rs204718
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
Mendelics RCV000990383 SCV001141341 benign Teebi hypertelorism syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809879 SCV002057576 benign Oculomaxillofacial dysostosis 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809880 SCV002057577 benign Autosomal dominant Opitz G/BBB syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990383 SCV002057578 benign Teebi hypertelorism syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067587 SCV002408928 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002067587 SCV005278469 benign not provided criteria provided, single submitter 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.