ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) (rs772848105)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671850 SCV000796879 uncertain significance Alstrom syndrome 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001788316 SCV002030957 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 3 amino acids; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 26582918)

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.