ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)

dbSNP: rs397509361
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000203371 SCV004193232 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2023-08-01 criteria provided, single submitter clinical testing
OMIM RCV004730831 SCV000020950 pathogenic METHYLMALONIC ACIDURIA, cblD TYPE 2008-04-03 no assertion criteria provided literature only
GeneReviews RCV000203371 SCV000258516 not provided Methylmalonic aciduria and homocystinuria type cblD no assertion provided literature only

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.