ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.144G>A (p.Pro48=)

gnomAD frequency: 0.00002  dbSNP: rs145786786
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
Eurofins Ntd Llc (ga) RCV000394006 SCV000345531 uncertain significance not provided 2016-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059304 SCV002392988 likely benign Muscle AMP deaminase deficiency 2023-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000394006 SCV004124238 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing AMPD1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003920169 SCV004730935 likely benign AMPD1-related disorder 2019-05-21 criteria provided, single submitter 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.