ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)

gnomAD frequency: 0.00017  dbSNP: rs143212851
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626282 SCV000746939 uncertain significance Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 2020-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483758 SCV002789861 uncertain significance Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2 2022-04-26 criteria provided, single submitter clinical testing
Invitae RCV002529787 SCV003475063 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV002529787 SCV003929980 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 34490615, 31761904)

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.