ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.303+117T>C

gnomAD frequency: 0.35577  dbSNP: rs2427746
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
GeneDx RCV000837604 SCV000979463 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001554031 SCV001775173 benign Farber lipogranulomatosis 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554032 SCV001775174 benign Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837604 SCV005265975 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.