ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)

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
Baylor Genetics RCV000680011 SCV000807449 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory homozygous in a 1-year-old male with congenital senseory and motor neuropathy, chronic respiratory failure, thrombocytopenia
Inherited Neuropathy Consortium RCV000790274 SCV000929677 uncertain significance Distal spinal muscular atrophy no assertion criteria 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.