ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1845C>T (p.Ile615=)

gnomAD frequency: 0.00419  dbSNP: rs34257411
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) RCV000152781 SCV000202169 benign not specified 2014-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000394995 SCV001102491 benign Muscle AMP deaminase deficiency 2024-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992199 SCV004811059 benign not provided 2024-03-01 criteria provided, single submitter clinical testing AMPD1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003992199 SCV005280447 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.