ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)

dbSNP: rs757588621
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317589 SCV000851140 likely benign Inborn genetic diseases 2019-01-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253636 SCV001429465 uncertain significance Developmental and epileptic encephalopathy, 1 2018-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504893 SCV001709779 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, ARX-related 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000722715 SCV001945450 likely benign not provided 2019-04-24 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722715 SCV000853846 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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.