ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.2616G>A (p.Pro872=)

gnomAD frequency: 0.00086  dbSNP: rs200238702
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000880078 SCV001023149 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501369 SCV002806410 likely benign Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-11-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000880078 SCV004148485 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing UNC80: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000880078 SCV005258255 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541777 SCV004770429 likely benign UNC80-related disorder 2020-01-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.