ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.809-16_809-15insG

gnomAD frequency: 0.00002  dbSNP: rs746125735
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
Illumina Laboratory Services, Illumina RCV001795912 SCV000355346 uncertain significance Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374808 SCV000355347 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284967 SCV000355348 uncertain significance Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003633498 SCV004375217 likely benign Actin accumulation myopathy 2023-06-28 criteria provided, single submitter clinical testing

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.